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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

POU1F1 Gene

protein-coding   GIFtS: 57
GCID: GC03M087307

POU class 1 homeobox 1

(Previous names: POU domain class 1, transcription factor 1 )
(Previous symbol: PIT1)
 Explore 41 diseases affiliated with
POU1F1 via
MalaCards
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 Human Malady Compendium 
Biological research products
for POU1F1    

Aliases
for POU1F1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
POU Class 1 Homeobox 11 2     Pit-12
PIT11 2 3 5     Pituitary-Specific Positive Transcription Factor 12
GHF-11 2 3     Pituitary-Specific Transcription Factor 12
POU1F1a1 2     POU Domain, Class 1, Transcription Factor 12
Growth Hormone Factor 12 3     GHF13
CPHD12 5     PIT-13
POU Domain Class 1, Transcription Factor 11     

External Ids:    HGNC: 92101   Entrez Gene: 54492   Ensembl: ENSG000000648357   OMIM: 1731105   UniProtKB: P280693   

Export aliases for POU1F1 gene to outside databases

Previous GC identifers: GC03M087883 GC03M090090 GC03M087188 GC03M087229 GC03M087391


Summaries
for POU1F1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for POU1F1:
This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein
regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this
genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069
Function: Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes
in the developing anterior pituitary. Activates growth hormone and prolactin genes. Specifically binds to the
consensus sequence 5'-TAAAT-3'

Gene Wiki entry for POU1F1 (Pituitary-specific positive transcription factor 1)


Genomic Views
for POU1F1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022459.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POU1F1 gene promoter:
         Pax-5   p53   AP-1   ATF-2   CREB   deltaCREB   c-Jun   Ik-1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: POU1F1 promoter sequence
   Search SABiosciences Chromatin IP Primers for POU1F1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POU1F1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p11   Ensembl cytogenetic band:  3p11.2   HGNC cytogenetic band: 3p11.2

POU1F1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU1F1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M087307:  view genomic region     (about GC identifiers)

Start:
 87,308,554 bp from pter      End:
 87,325,737 bp from pter
Size:
 17,184 bases      Orientation:
 minus strand

Proteins
for POU1F1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069 (See protein sequence)
Recommended Name: Pituitary-specific positive transcription factor 1  
Size: 291 amino acids; 32912 Da
Subcellular location: Nucleus
Sequence caution: Sequence=CAA54440.2; Type=Erroneous gene model prediction;
Secondary accessions: O75757 Q15132 Q15133 Q9UD34 Q9UEL3
Alternative splicing: 2 isoforms:  P28069-1   P28069-2   (Altered in its ability to trans-activate compared to isoform B)

Explore the universe of human proteins at neXtProt for POU1F1: NX_P28069

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P28069

    • POU1F1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_000297.1  NP_001116229.1  

    ENSEMBL proteins: 
     ENSP00000263781   ENSP00000342931   ENSP00000454072   ENSP00000452610  

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    Uscn Proteins for POU1F1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--


    POU1F1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for POU1F1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    POU1F1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR015586 Pit_1
     IPR010982 Lambda_DNA-bd_dom
     IPR013847 POU
     IPR000327 POU_specific
     IPR017970 Homeobox_CS

    Graphical View of Domain Structure for InterPro Entry P28069

    ProtoNet protein and cluster: P28069

    2 Blocks protein families:
    IPB000327 POU domain
    IPB013847 POU


    UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069
    Similarity: Belongs to the POU transcription factor family. Class-1 subfamily
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 POU-specific domain


    Function
    for POU1F1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069
    Function: Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes
    in the developing anterior pituitary. Activates growth hormone and prolactin genes. Specifically binds to the
    consensus sequence 5'-TAAAT-3'

         Genatlas biochemistry entry for POU1F1:
    POU domain,class 1,transcription factor 1,mammalian homeo box backfoot,Drosophila bicoid related,expressed in Rathke
    pouch,at an early stage of pituitary development and in a subset of adult anterior pituitary cells that express
    POMC,binding PITX2,reciprocally interacting with GATA2 for the mediation of signaling gradient-induced determination
    of pituitary cell types

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0001102RNA polymerase II activating transcription factor binding IPI9685346
    GO:0001105RNA polymerase II transcription coactivator activity IDA9685346
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--


    POU1F1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for POU1F1:
     Decreased p24 protein expressi 

    Animal Models:
         9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Pou1f1):
     craniofacial  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  nervous system  reproductive system 

    POU1F1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for POU1F1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glucocorticoid receptor regulatory network
    		Glucocorticoid receptor regulatory network1.00


    1 BioSystems Pathway for POU1F1 
        Glucocorticoid receptor regulatory network


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POU1F1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/17 Interacting proteins for POU1F1 (P280692, 3 ENSP000003429314) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETS1P149212, 3, ENSP000003764364MINT-14055 I2D: score=1 STRING: ENSP00000376436
    JUNP054123, ENSP000003602664I2D: score=2 STRING: ENSP00000360266
    NR3C1P041503, ENSP000002315094I2D: score=2 STRING: ENSP00000231509
    MED1Q156483, ENSP000003006514I2D: score=1 STRING: ENSP00000300651
    NR1I3Q149943, ENSP000003569594I2D: score=1 STRING: ENSP00000356959
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001708cell fate specification IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS1487156
    GO:0008284positive regulation of cell proliferation IEA--


    POU1F1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for POU1F1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    POU1F1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for POU1F1
    10/28 Novoseek chemical compound relationships for POU1F1 gene (see all 28)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ptx1 83.5 8 9514159 (2), 10859489 (2), 18079591 (1), 11027489 (1) (see all 5)
    acth 59.9 17 8890999 (3), 8739890 (3), 8949563 (2), 12780757 (1) (see all 10)
    forskolin 43 18 8625901 (4), 7961740 (3), 16879162 (1), 1584227 (1) (see all 5)
    bromocriptine 42.6 2 7621575 (1), 9207961 (1)
    ribonucleic acid 40.1 7 7608249 (2), 8869065 (2), 8733768 (1), 8784102 (1) (see all 5)
    cyclic amp 33.7 21 8645191 (4), 8625901 (2), 9751061 (2), 8524234 (2) (see all 7)
    estrogen 20.9 18 15221415 (3), 2379827 (2), 8733768 (1), 8424109 (1) (see all 12)
    dopamine 13.1 9 7706253 (3), 1835974 (3), 9167960 (1), 10449917 (1)
    okadaic acid 12.8 6 9717847 (3), 8232316 (1), 11266513 (1)
    arginine 12 4 9588494 (1), 12773133 (1), 9829213 (1)

    Search CenterWatch for drugs/clinical trials and news about POU1F1 / PIT1 

    Transcripts
    for POU1F1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for POU1F1 gene (2 alternative transcripts): 
    NM_000306.2  NM_001122757.1  

    Unigene Cluster for POU1F1:

    POU class 1 homeobox 1
    Hs.591654  [show with all ESTs]
    Unigene Representative Sequence: NM_001122757
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000350375(uc010hoj.1 uc003dqq.1) ENST00000344265 ENST00000561167
    ENST00000560656

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate POU1F1:
    hsa-miR-4251
    SwitchGear 3'UTR luciferase reporter plasmid: POU1F1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    D10216.1 L18781.1 X62429.1 X72215.1 

    2 DOTS entries:

    DT.206672  DT.91910385 

    8 AceView cDNA sequences:

    D10216 NM_000306 L18781 X72215 CD242816 X62429 CD237360 AV747622 

    GeneLoc Exon Structure


    Expression
    for POU1F1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    POU1F1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAACTGAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See POU1F1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POU1F1

    SOURCE GeneReport for Unigene cluster: Hs.591654
        SABiosciences Expression via Pathway-Focused PCR Arrays including POU1F1: 
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              Neurotoxicity in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for POU1F1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for POU1F1 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves POU1F11 POU class 1 homeobox 1 78.4(n)
    86.67(a)    		   374215  NM_204319.1  NP_989650.1 
    lizard
    (Anolis carolinensis)    		 Reptilia POU1F16
    		 --
    		 71(a)
    		 1 ↔ 1
    		 3(161399902-161417222)
    zebrafish
    (Danio rerio)    		 Actinopterygii pou1f11 POU domain, class 1, transcription factor 1 66.45(n)
    71.85(a)    		   405777  NM_212851.1  NP_998016.1 


    ENSEMBL Gene Tree for POU1F1 (if available)
    TreeFam Gene Tree for POU1F1 (if available) 

    Paralogs
    for POU1F1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POU1F1 gene
    POU5F22  POU6F22  POU4F22  POU2F32  POU3F42  POU3F12  POU4F32  POU3F32  
    POU3F22  POU2F22  POU5F1B2  POU2F12  POU4F12  POU5F12  POU6F12  
    18/19 SIMAP similar genes for POU1F1 using alignment to 3 protein entries:     PIT1_HUMAN (see all proteins) (see all similar genes):
    OCT6    POU6F1    POU5F1P4    POU3F1    POU3F4    POU4F1
    OCT-2    POU3F3    POU5F1    POU2F3    POU2F1    POU2F2
    POU5F1P1    POU3F2    POU5F1B    POU4F2    POU4F3    NKX2-5

    POU1F1 for paralogs           About GeneDecksing



    Genomic Variants
    for POU1F1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    334/335 NCBI SNPs in POU1F1 are shown (see all 335)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs358936261,2
    		C,F,non-pathogenic87335780(-) GAAACA/TCAGCA 3 T S int1 mis16Minor allele frequency- T:0.01MN CSA 410
    rs1048937551,2
    		Cpathogenic87322338(-) AAAAAC/TGGGTG 4 R W mis10--------
    rs1048937621,2
    		Cpathogenic87322434(-) ATAAAC/TCTTCT 4 P S mis10--------
    rs1048937641,2
    		Cpathogenic87322461(-) CTCTGA/GAGAGA 4 K E mis10--------
    rs1048937661,2
    		Cpathogenic87324501(-) CTCAGC/GTTTAA 4 S R mis10--------
    rs1048937651,2
    		Cpathogenic87324523(-) CTGCCA/GATTTG 4 Q R mis10--------
    rs1048937541,2
    		Cpathogenic87324524(-) TCTGCC/TGATTT 4 R * stg10--------
    rs1048937631,2
    		Cpathogenic87326657(-) GAATTA/TAATTA 4 K * stg10--------
    rs1048937611,2
    		Cpathogenic87326686(-) AAAGTG/TTGCCA 4 C F mis10--------
    rs1823891861,2
    		--87308297(+) CCCTGA/GAGAGG 2 -- ds50010--------
    rs38046051,2
    		C,F,H,--87308553(+) TAAAAC/GTATAA 2 -- ds500115Minor allele frequency- G:0.27MN NS EA NA WA CSA 1019
    rs353681341,2
    		C,F,--87308573(-) AACTT-/AAGAGN 2 -- ds50015Minor allele frequency- A:0.04MN 404
    rs1445641871,2
    		--87308735(+) CTTATA/TAACCC 2 -- ds50010--------
    rs38401971,2
    		C,F,--87308747(+) TACTC-/ATATGTC 2 -- ds50016Minor allele frequency- AT:0.10MN CSA 378
    rs67925001,2
    		C,--87308831(+) ATAGAT/CAATGT 2 -- ut3117Minor allele frequency- C:0.00MN NA WA CSA EA 755
    rs1869694261,2
    		--87308860(+) TTTTAA/TGTAAA 2 -- ut310--------
    rs2013149811,2
    		--87308903(+) TTTTT-/ATAAAA 2 -- ut310--------
    rs339361081,2
    		C,F,--87308904(-) TTTTTT/AAAAAA 2 -- ut3124Minor allele frequency- A:0.48MN NA WA 1870
    rs773706001,2
    		C,F,--87308905(+) TTTTTA/TAAAAA 2 -- ut312Minor allele frequency- T:0.13WA NA 238
    rs1902879931,2
    		--87308906(+) TTTTAA/TAAAAA 2 -- ut310--------
    rs1440798291,2
    		F--87309053(+) CTGCAC/TTCAAG 4 E syn11Minor allele frequency- T:0.00NA 4144
    rs762966261,2
    		C,--87309259(+) GCTGGC/TGGGGG 2 -- int12Minor allele frequency- T:0.01EA EU 949
    rs2019951031,2
    		--87309260(+) CTGGCA/GGGGGG 2 -- int10--------
    rs1821270671,2
    		--87309262(+) GGCGGC/GGGGTG 2 -- int10--------
    rs2005291991,2
    		--87309265(+) GGGGGA/GTGGAC 2 -- int10--------
    rs1867641041,2
    		--87309678(+) TTGCTA/GAGCAT 2 -- int10--------
    rs1930282191,2
    		--87309808(+) AGACAC/TCATGG 2 -- int10--------
    rs1995550321,2
    		--87310016(+) TATTA-/TTTT  
                TTTTT     		2 -- int10--------
    rs1508086401,2
    		C,--87310019(+) TATTT-/TTT   
       TTTTA    TTTAT     		2 -- int10--------
    rs124972621,2
    		C,H--87310022(+) TTTTTA/TTTTAT 2 -- int1 trp31Minor allele frequency- T:0.00WA 2
    rs1857706601,2
    		--87310153(+) CCTCCC/TAGGTT 2 -- int10--------
    rs1396493671,2
    		--87310556(+) GGATTG/TCAAAT 2 -- int10--------
    rs1881834121,2
    		--87310659(+) TCAACA/GCAGAA 2 -- int10--------
    rs1931655671,2
    		--87310912(+) AATTTC/TTCTAG 2 -- int10--------
    rs1846959441,2
    		--87311163(+) CTTATC/TGAAGC 2 -- int10--------
    rs2000891821,2
    		--87311181(+) TTTAGG/TTTAAA 2 -- int10--------
    rs2018552501,2
    		--87311425(+) TTTCCA/GGGAAA 2 -- int10--------
    rs1886672891,2
    		--87311495(+) TTTTTG/TAACTA 2 -- int10--------
    rs1479099271,2
    		--87311499(+) TTAACC/TATATA 2 -- int10--------
    rs111279751,2
    		C,F,A,H,--87311731(+) AGTTAT/CCAAAT 2 -- int115Minor allele frequency- C:0.37NA MN WA CSA EA 774
    rs124861591,2
    		C,F,A,H,--87311893(+) CATATT/ATATTA 2 -- int117Minor allele frequency- A:0.23NA NS EA MN 1382
    rs1399275131,2
    		--87311938(+) GAGCCA/CATTTT 2 -- int10--------
    rs1428070721,2
    		--87312086(+) CAAAGA/CTTCCT 2 -- int10--------
    rs1440724141,2
    		C,--87312299(+) GTCAA-/TTG   
      TTATAG    TTGTT     		2 -- int10--------
    rs1813675571,2
    		--87312332(+) CTTCAA/GTAGAA 2 -- int10--------
    rs1837354731,2
    		--87312429(+) TAATAA/GAAGAA 2 -- int10--------
    rs1895281081,2
    		--87312600(+) AGAAAC/TAGATT 2 -- int10--------
    rs1819941121,2
    		--87312712(+) TGATAA/TCATCT 2 -- int10--------
    rs792941581,2
    		C--87312778(+) TGCTGC/TGCATA 2 -- int10--------
    rs1510344191,2
    		--87312921(+) TGGAAC/TTTGAC 2 -- int10--------
    rs1411235551,2
    		--87312936(+) CCACAA/GAGGAA 2 -- int10--------
    rs1874138641,2
    		--87313052(+) TGGAAA/GGATAC 2 -- int10--------
    rs1502651871,2
    		--87313075(+) CAACGA/TTATAC 2 -- int10--------
    rs98371951,2
    		C,F,H,--87313147(+) AATGTA/GTGGCC 2 -- int123Minor allele frequency- G:0.41NS EA NA WA CSA 2343
    rs1158641241,2
    		F,--87313233(+) ATTATT/CAATTT 2 -- int11Minor allele frequency- C:0.03WA 118
    rs1905416131,2
    		--87313308(+) AACGAC/GTAACT 2 -- int10--------
    rs49884621,2
    		C,F,--87313353(-) AAAAAG/ATACAA 2 -- int112Minor allele frequency- A:0.27NA MN EA 776
    rs1859653571,2
    		C,--87313435(+) GCACAC/TACCTA 2 -- int10--------
    rs1433730071,2
    		C,F--87313507(+) ATCCAT/CGTCTA 4 /M /V mis12Minor allele frequency- C:0.00NA EU 5865
    rs1383561381,2
    		C,F--87313540(+) TTTCCG/ACCTGA 4 /R /W mis12Minor allele frequency- A:0.00NA EU 5865
    rs49884601,2
    		C,F,H,--87313625(-) GACCAC/TACCTT 4 H syn1 ese314Minor allele frequency- T:0.00MN NS EA NA EU 6959
    rs2010652851,2
    		C,--87313653(+) AAGGGG/TTTAAA 4 N T mis10--------
    rs1181194401,2
    		F,--87313903(+) AGAAGC/TAGGGG 2 -- int11Minor allele frequency- T:0.11EA 120
    rs1900329681,2
    		--87314298(+) CTTGAA/GGAGTG 2 -- int10--------
    rs1825818151,2
    		--87314326(+) GGTAAC/TCTTAA 2 -- int10--------
    rs1858396971,2
    		--87314485(+) AAAGCA/GTTGAC 2 -- int10--------
    rs1406725141,2
    		--87314586(+) AGTCTA/TTCTCA 2 -- int10--------
    rs1910375511,2
    		--87314683(+) TTTATC/TGACAA 2 -- int10--------
    rs1836683031,2
    		--87314696(+) ATTCTA/GCTTCA 2 -- int10--------
    rs1457665081,2
    		--87314706(+) AATTTA/GTATTA 2 -- int10--------
    rs1379364231,2
    		--87314853(+) ATACAA/GTATAA 2 -- int10--------
    rs74331161,2
    		C,F,A,H,--87314984(+) GCATCC/GAAAGA 2 -- int112Minor allele frequency- G:0.27NA WA CSA EA 377
    rs1890217021,2
    		--87315123(+) ATTACA/TATGGA 2 -- int10--------
    rs98238931,2
    		C,A,--87315389(+) tatttT/Atataa 2 -- int11Minor allele frequency- A:0.00NA 2
    rs1926924611,2
    		--87315403(+) TTATAG/TTTTAT 2 -- int10--------
    rs1829582251,2
    		--87315556(+) AAATAC/TGTAAT 2 -- int10--------
    rs98245921,2
    		C,F,H,--87315800(+) CAGACA/CAGAGA 2 -- int112Minor allele frequency- C:0.40NS EA NA WA CSA 784
    rs1876291341,2
    		--87316000(+) TGAAGA/GCTTGT 2 -- int10--------
    rs1430476641,2
    		--87316159(+) ATTTTC/GTACAT 2 -- int10--------
    rs1916724791,2
    		--87316237(+) AAAATC/TTGTGT 2 -- int10--------
    rs1842648081,2
    		--87316348(+) TTCTAC/TGCAAC 2 -- int10--------
    rs1889953361,2
    		--87316388(+) TATCAA/TCTTTA 2 -- int10--------
    rs1166821141,2
    		--87316475(+) GAAAGT/CAAATA 2 -- int11Minor allele frequency- C:0.01WA 118
    rs1166380501,2
    		F,--87316492(+) CTCCAG/ATGCCC 2 -- int11Minor allele frequency- A:0.02NA 120
    rs1481923091,2
    		--87316575(+) TGCCCA/GGTTCA 2 -- int10--------
    rs1927377811,2
    		--87316608(+) GGCAAA/TTTAAA 2 -- int10--------
    rs716195421,2
    		C--87316743(+) GTTTATTTG/-  
                TTTGT     		2 -- int11Minor allele frequency- -:0.50NA 2
    rs749882551,2
    		C,--87316743(+) GTTTA-/TTTG  
                TTTGT     		2 -- int10--------
    rs2020133491,2
    		C--87316746(+) TATTTA/GTTTGT 2 -- int10--------
    rs113398841,2
    		C,F,--87316830(+) TTAGCT/-CATTG 2 -- int15Minor allele frequency- -:0.50NA CSA 10
    rs1413806681,2
    		--87316906(+) TGCACC/TGCCAT 2 -- int10--------
    rs1508027281,2
    		--87316907(+) GCACCA/GCCATG 2 -- int10--------
    rs76373881,2
    		C,F,A,H,--87316917(+) GCTCAT/ACTACT 2 -- int114Minor allele frequency- A:0.34NS EA NA WA CSA 790
    rs1845288061,2
    		--87317103(+) GAAAGA/TGGACA 2 -- int10--------
    rs2012670841,2
    		--87317231(+) CCTTT-/CCCCTT 2 -- int10--------
    rs113879581,2
    		C--87317235(+) TTTTTT/-TTTTT 2 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs577703551,2
    		C--87317235(+) TTCCCC/TTTTTT 2 -- int10--------
    rs1397400961,2
    		--87317367(+) GGGACG/TACAGG 2 -- int10--------
    rs74314131,2
    		C,H,--87317373(+) ACAGGC/TGCCTG 2 -- int18Minor allele frequency- T:0.00NA WA CSA 19
    rs1500092371,2
    		--87317586(+) AGTATA/CTACAA 2 -- int10--------
    rs1905382901,2
    		--87317721(+) GAGTGA/GTTGGG 2 -- int10--------
    rs1452093831,2
    		--87317745(+) CAATAC/TGTTTT 2 -- int10--------
    rs1819821771,2
    		--87318148(+) TCTCAC/TGTTAC 2 -- int10--------
    rs1470779521,2
    		C,--87318167(+) GCCTT-/AAAAAA 2 -- int10--------
    rs1487129021,2
    		--87318237(+) TGCACA/GGGAAC 2 -- int10--------
    rs1857300941,2
    		--87318264(+) CCATAC/TATTCC 2 -- int10--------
    rs1157353441,2
    		F,--87318299(+) TCAAAG/AGAAAT 2 -- int11Minor allele frequency- A:0.03NA 120
    rs1422545141,2
    		--87318364(+) GTACAA/GCTGGG 2 -- int10--------
    rs1468846761,2
    		--87318524(+) GAAAAC/GGGTTG 2 -- int10--------
    rs1406907821,2
    		--87318633(+) TAGAGC/TTGTTA 2 -- int10--------
    rs1890218831,2
    		--87318659(+) AGGGCC/TAAATA 2 -- int10--------
    rs98229111,2
    		C,F,A,H,--87318758(+) ACTATC/TTCTCC 2 -- int131Minor allele frequency- N:0.00EA NA MN NS WA CSA 2964
    rs354223841,2
    		C,F,--87318780(-) AAATCA/GGCCTG 2 -- int16Minor allele frequency- G:0.03MN EA 520
    rs1501218371,2
    		--87318928(+) GTTTG-/TTTGT 
                TTTGT     		2 -- int10--------
    rs1157030701,2
    		--87319029(+) TGGTGG/TGTTTA 2 -- int11Minor allele frequency- T:0.01WA 118
    rs1810367191,2
    		--87319178(+) GTTTTA/GAGAAC 2 -- int10--------
    rs1466037591,2
    		--87319482(+) CAATGC/TTAGTA 2 -- int10--------
    rs1409512541,2
    		--87319888(+) ATAAGA/GTTTCT 2 -- int10--------
    rs1865913421,2
    		--87320069(+) ATATAA/GACATT 2 -- int10--------
    rs1913521451,2
    		--87320111(+) AATTTA/TTGAGA 2 -- int10--------
    rs1828441751,2
    		--87320249(+) TTCTGC/TTCTTG 2 -- int10--------
    rs1501106301,2
    		--87320401(+) TGCCAA/GCACTC 2 -- int10--------
    rs1384256751,2
    		--87320523(+) GGGTGG/TGAGTT 2 -- int10--------
    rs1488304911,2
    		--87320621(+) CAACTA/GGCAGG 2 -- int10--------
    rs1434226481,2
    		--87320643(+) TGCTGA/GGTTAA 2 -- int10--------
    rs1164512961,2
    		F,--87320728(+) AGTGGC/GATGTG 2 -- int11Minor allele frequency- G:0.02WA 118
    rs171894661,2
    		C,F,H,--87321022(+) AAATGT/CTAGGA 2 -- int138Minor allele frequency- C:0.15NA NS EA MN WA CSA 3714
    rs1860698191,2
    		--87321054(+) GCTTGA/CTAGAA 2 -- int10--------
    rs1909741521,2
    		--87321067(+) TAGGAC/GAAGCT 2 -- int10--------
    rs1382100141,2
    		--87321181(+) TATTTC/GCTCCA 2 -- int10--------
    rs1437221131,2
    		--87321228(+) TCTGCA/GGTTTT 2 -- int10--------
    rs1834554701,2
    		--87321359(+) TGCACA/TCGCAC 2 -- int10--------
    rs1472051661,2
    		--87321424(+) TAATAA/CAGATA 2 -- int10--------
    rs1874301871,2
    		--87321486(+) TTTAGA/GGTACA 2 -- int10--------
    rs124869321,2
    		C,A,H,--87321530(+) ACATGC/TGCCAT 2 -- int12Minor allele frequency- T:0.27NA 122
    rs1161214611,2
    		--87321531(+) CATGCG/ACCATG 2 -- int11Minor allele frequency- A:0.01NA 120
    rs26462251,2
    		C,F,A,H,--87321560(+) TAACTT/CGTCAT 2 -- int18Minor allele frequency- C:0.43NA WA CSA EA 251
    rs1921770241,2
    		--87321571(+) TTAGCA/GTTAGG 2 -- int10--------
    rs1388067981,2
    		--87321620(+) TGAAAA/GTCCTG 2 -- int10--------
    rs1149524211,2
    		--87321626(+) TCCTGC/TGCATA 2 -- int11Minor allele frequency- T:0.01WA 118
    rs1419093051,2
    		--87321643(+) CTGTGC/TACTTT 2 -- int10--------
    rs1828146561,2
    		--87321714(+) ATAGAC/TCTCAT 2 -- int10--------
    rs1506448251,2
    		--87321734(+) CTACGC/TATTCC 2 -- int10--------
    rs170241181,2
    		C,F,H,--87321757(+) CTTCAA/GTGCCT 2 -- int127Minor allele frequency- G:0.34NA NS EA CSA WA 2906
    rs343392061,2
    		F--87321786(-) GTGTC-/TTATAST 2 -- ds50015Minor allele frequency- TT:0.01MN 408
    rs38401961,2
    		C--87321798(+) CTCCA-/GCTCTN 2 -- ds50015Minor allele frequency- G:0.00MN 376
    rs1143328901,2
    		F,--87321901(+) CTAAAG/TCCTGA 2 -- int11Minor allele frequency- T:0.03WA 118
    rs354458741,2
    		C,F,--87321939(-) ATGTAT/CATTAG 2 -- ds50016Minor allele frequency- C:0.05MN NA 496
    rs1436874941,2
    		C,--87322003(+) TGATG-/AGGGGG 2 -- int10--------
    rs2000346131,2
    		C--87322003(+) TGATGA/GGGGGG 2 -- int10--------
    rs1927564541,2
    		--87322205(+) CAATAA/GCATCA 2 -- int10--------
    rs1397472341,2
    		--87322271(+) ACTCAA/GGAAGC 2 -- int10--------
    rs1181564521,2
    		F,--87322323(+) CCCCTA/GTGGTC 2 -- int11Minor allele frequency- G:0.02EA 120
    rs1843959841,2
    		--87322371(+) ATTTTG/TAACAG 2 -- int10--------
    rs1048937601,2
    		C--87322401(-) CTGAAG/TAACTG 4 E * stg10--------
    rs1892214341,2
    		C,--87322591(+) GTCACC/GGAGAA 3 S syn1 int10--------
    rs1462898051,2
    		--87322666(+) TATAAC/GGATTC 2 -- int10--------
    rs1149783801,2
    		F,--87322668(+) TAAGGA/TTTCAA 2 -- int11Minor allele frequency- T:0.02WA 118
    rs1923842521,2
    		--87322725(+) AGTTAC/TATGCC 2 -- int10--------
    rs1397799131,2
    		--87322809(+) TGTAAC/TGAGAT 2 -- int10--------
    rs1847212331,2
    		--87322872(+) TACGAC/GTGCCC 2 -- int10--------
    rs1445012501,2
    		--87323020(+) TAAAGC/TAGTCT 2 -- int10--------
    rs3009771,2
    		C,F,A,H,--87323060(+) AACAGC/TGTATT 2 -- int125Minor allele frequency- T:0.40MN NA EA NS WA CSA 1737
    rs1466145541,2
    		--87323190(+) CAATAC/TATGAT 2 -- int10--------
    rs3009781,2
    		C,F,O,A,H,--87323334(+) AAGCCG/TTACAT 2 -- int130Minor allele frequency- T:0.38NA MN NS EA WA CSA 2870
    rs1491962361,2
    		--87323444(+) ATCATA/CAAGTT 2 -- int10--------
    rs1423901991,2
    		--87323491(+) TTTCCG/TTATAT 2 -- int10--------
    rs3009791,2
    		C,F,O,A,H,--87323590(+) AAGTAT/CGGTTA 2 -- int110Minor allele frequency- C:0.16NA WA CSA EA 508
    rs1511708401,2
    		--87323591(+) AGTATC/GGTTAG 2 -- int10--------
    rs3009801,2
    		C,F,A,--87323824(+) AAACAC/TATTTA 2 -- int117Minor allele frequency- T:0.20MN NA WA CSA EA 964
    rs1469417871,2
    		--87323838(+) CTCAAA/GTGTTC 2 -- int10--------
    rs725492391,2
    		F--87323941(-) AATGTT/-TTTAA 2 -- int15Minor allele frequency- -:0.01MN 408
    rs1148285831,2
    		F,--87323945(+) TAAAAC/TATTTG 2 -- int11Minor allele frequency- T:0.04WA 118
    rs1887782001,2
    		--87323960(+) TCACTG/TTTATT 2 -- int10--------
    rs1379053421,2
    		--87324219(+) ATGACC/GTACTA 2 -- int10--------
    rs361059651,2
    		F--87324301(-) AATAAA/GCATTT 2 -- int15Minor allele frequency- G:0.01MN 404
    rs344536551,2
    		F--87324328(-) TTTCCG/ACCTTT 2 -- int15Minor allele frequency- A:0.01MN 404
    rs1815069411,2
    		--87324455(+) CTCTAA/GATTCT 2 -- int10--------
    rs1048937581,2
    		C--87324461(-) CCAAAC/TGGCTG 4 R W mis10--------
    rs1853612171,2
    		--87324494(+) ACTTAC/TGCATG 2 -- int10--------
    rs3009811,2
    		C,H,--87324524(+) AATAAT/CAAAAG 2 -- int111Minor allele frequency- C:0.00MN NA WA CSA EA 555
    rs356777311,2
    		C,F,--87324555(-) GTGCAT/CGGCTC 4 /H syn12Minor allele frequency- C:0.00NA 4622
    rs1048937561,2
    		C--87324566(-) CCCTGC/GCAGCT 4 P A mis10--------
    rs1423049341,2
    		--87324626(+) TTGCAC/TTTAAA 2 -- int10--------
    rs1897631671,2
    		--87324760(+) AAAACA/CTATGT 2 -- int10--------
    rs1814174211,2
    		--87324913(+) TTTAAA/GTGTCA 2 -- int10--------
    rs725631341,2
    		F--87324941(-) TGRTAA/CCTAAC 2 -- int15Minor allele frequency- C:0.01MN 400
    rs725631351,2
    		F--87324966(-) TAAAAT/ATTTTT 2 -- int15Minor allele frequency- A:0.01MN 400
    rs1859484541,2
    		--87324973(+) AAAACC/TCTATT 2 -- int10--------
    rs1386339521,2
    		C,--87324975(+) AACTC-/TATTTTA 2 -- int10--------
    rs725631361,2
    		C,F,--87325000(-) TAACCG/ATATAT 2 -- int17Minor allele frequency- A:0.02MN WA 520
    rs725631371,2
    		F,--87325016(-) AGAATG/TTTATG 2 -- int17Minor allele frequency- T:0.04MN WA NA 638
    rs725631381,2
    		F--87325066(-) TTTATT/CTAGTA 2 -- int15Minor allele frequency- C:0.01MN 404
    rs725631391,2
    		F,--87325269(-) TCTATC/TTATAT 2 -- int17Minor allele frequency- T:0.02MN WA EA 642
    rs1899472691,2
    		--87325309(+) TGGCAG/TGTTGG 2 -- int10--------
    rs801651311,2
    		F,--87325363(+) ATATAC/TCTATA 2 -- int11Minor allele frequency- T:0.06EA 120
    rs1817804131,2
    		--87325374(+) TAAAAG/TGAAAG 2 -- int10--------
    rs2003859971,2
    		--87325444(+) GGTCAC/TATGTA 2 -- int10--------
    rs2017943031,2
    		--87325490(+) TTGGTG/TGCATG 4 A syn10--------
    rs1461188491,2
    		C,--87325550(+) AGAGTG/TGCAGA 4 A syn10--------
    rs355606641,2
    		C,F--87325586(-) TCGGCT/CGATAC 4 /A syn13Minor allele frequency- C:0.00NA EU 5937
    rs2011564271,2
    		--87325607(+) TGGCAA/GCTCAT 4 S syn10--------
    rs3009821,2
    		C,F,A,H,--87325753(+) GGTGCG/ACGCTA 2 -- us2k125Minor allele frequency- A:0.05MN NS EA NA 2618
    rs1388933451,2
    		--87325781(+) AAATCC/TCTTTA 2 -- us2k10--------
    rs746875621,2
    		--87325836(+) GCCGTT/CTTGGA 2 -- int11Minor allele frequency- C:0.01EA 120
    rs1912012541,2
    		--87325972(+) TCAACA/CATTTT 2 -- us2k10--------
    rs1885038401,2
    		--87326143(+) ATACAC/TAATTT 2 -- us2k10--------
    rs105111341,2
    		C,F,H,--87326221(+) TAATGA/TTTCAT 2 -- us2k1 tfbs328Minor allele frequency- T:0.32NS NA EA MN CSA WA 1712
    rs1493033711,2
    		--87326235(+) CAAAAA/GTGCAC 2 -- us2k10--------
    rs1445227571,2
    		--87326262(+) GACAAC/TCAATA 2 -- us2k10--------
    rs1912756331,2
    		--87326348(+) TGATTA/GCATTA 2 -- us2k10--------
    rs1483266301,2
    		--87326355(+) ATTAAC/TGGCAA 2 -- us2k10--------
    rs622578011,2
    		--87326460(+) AATTAT/GGTATT 2 -- int12Minor allele frequency- G:0.02NA 122
    rs49884611,2
    		C,--87326588(-) GTTAAA/GTCTCT 2 -- int15Minor allele frequency- G:0.00MN 408
    rs1048937591,2
    		C--87326662(-) GAGACA/GAATTA 4 Q R mis10--------
    rs1864687891,2
    		--87326739(+) GAGTAC/TGTAAT 2 -- us2k10--------
    rs1414619771,2
    		--87326824(+) TATTAA/TTGATG 2 -- us2k10--------
    rs1913142181,2
    		--87326855(+) ACTACA/GGAATG 2 -- us2k10--------
    rs22706671,2
    		C--87326980(+) CTAGCC/GTGTCT 2 -- int16Minor allele frequency- G:0.00EA MN 1870
    rs1463158001,2
    		--87327039(+) CATATC/TTTTTC 2 -- us2k10--------
    rs1837596101,2
    		--87327074(+) CTTTAA/TTAGTC 2 -- us2k10--------
    rs1877522581,2
    		--87327143(+) CTGATA/CATTTT 2 -- us2k10--------
    rs1931293621,2
    		--87327213(+) AAAATC/TAAATA 2 -- us2k10--------
    rs1394906901,2
    		--87327387(+) AGATAC/TTTTAT 2 -- us2k10--------
    rs1852234581,2
    		--87327695(+) TTGCAC/TTTTCA 2 -- us2k10--------
    rs4949851,2
    		H--87328532(+) AATTGT/GTGGtt 2 -- int14Minor allele frequency- G:0.00NS EA 418
    rs731504741,2
    		--87328977(+) CTATCC/TATTTT 2 -- int10--------
    rs4011051,2
    		H--87330398(-) TTTTCC/TTTCTT 2 -- int1 trp34Minor allele frequency- T:0.00NS EA 412
    rs117188391,2
    		C,F,H,--87330596(+) ccacaC/Tccggc 2 -- int11Minor allele frequency- T:0.33NA 6
    rs4533731,2
    		F--87330891(+) TGTTTC/TTAGCA 2 -- int11Minor allele frequency- T:0.03MN 184
    rs762483581,2
    		C,F,--87330915(+) TTGGGG/AGAGTG 2 -- int11Minor allele frequency- A:0.04WA 118
    rs4296251,2
    		H--87331053(-) TTTCAG/AAAAAT 2 -- int15Minor allele frequency- A:0.00MN NS EA 602
    rs3949391,2
    		H--87331114(-) CACTTC/TTGAGC 2 -- int15Minor allele frequency- T:0.00MN NS EA 602
    rs21298751,2
    		C,F,H,--87331123(+) TGTTTG/TCACAC 2 -- int17Minor allele frequency- T:0.08NS EA WA 540
    rs791209801,2
    		F,--87331442(+) AACATG/ACACAG 2 -- int12Minor allele frequency- A:0.03WA NA 238
    rs729240421,2
    		C,--87331496(+) AGGCAT/CAAAAA 2 -- int12Minor allele frequency- C:0.04WA 120
    rs769583981,2
    		F,--87331591(+) GCCTGT/CGTTTG 2 -- int12Minor allele frequency- C:0.03WA NA 238
    rs798479441,2
    		F,--87331744(+) CCAACC/TCCTAG 2 -- int12Minor allele frequency- T:0.05WA NA 238
    rs725491421,2
    		F--87331933(-) TTTTCA/GTTTTT 2 -- int15Minor allele frequency- G:0.01MN 408
    rs725491431,2
    		F,--87331939(-) CCCATC/TTTTTC 2 -- int15Minor allele frequency- T:0.01MN 408
    rs353186471,2
    		F--87331949(-) ATTTT-/TGGAAC 2 -- int15Minor allele frequency- T:0.01MN 404
    rs345074921,2
    		F--87331963(-) ARATAG/TTCTAG 2 -- int15Minor allele frequency- T:0.01MN 400
    rs725491441,2
    		F,--87331996(-) AAAACG/AGAAAT 2 -- int17Minor allele frequency- A:0.03MN WA NA 646
    rs725491451,2
    		F--87332080(-) YAATTC/TTTTTT 2 -- int15Minor allele frequency- T:0.01MN 404
    rs343933461,2
    		C,F,--87332085(-) GCATCC/TAATTC 2 -- int17Minor allele frequency- T:0.02MN WA 520
    rs725491461,2
    		F--87332091(-) TGATGA/GGCATC 2 -- int15Minor allele frequency- G:0.01MN 400
    rs1140612811,2
    		C,F,--87332303(+) AACCCC/TCATTG 2 -- int11Minor allele frequency- T:0.03WA 118
    rs750377501,2
    		C,--87332551(+) AGAGTA/GCGTGA 2 -- int12Minor allele frequency- G:0.06CSA WA 120
    rs772812451,2
    		C,F,--87332552(+) GAGTAC/TGTGAA 2 -- int11Minor allele frequency- T:0.03WA 118
    rs3862001,2
    		H--87332574(-) TGATTT/GCTCTT 2 -- int1 trp35Minor allele frequency- G:0.00MN NS EA 602
    rs788531541,2
    		F,--87333335(+) TTTAAC/GAATCC 2 -- int12Minor allele frequency- G:0.05WA NA 238
    rs45492751,2
    		H--87333590(+) TGTATC/GAGAAA 2 -- int14Minor allele frequency- G:0.00NS EA 416
    rs3656441,2
    		F--87333674(-) CCTCAG/AAATTC 2 -- int11Minor allele frequency- A:0.38MN 184
    rs681673701,2
    		C,F,--87334405(-) AATTTT/GCAAGT 2 -- int18Minor allele frequency- G:0.04MN WA 514
    rs350154981,2
    		--87335215(+) TGGGGT/GGGGTG 2 -- int11Minor allele frequency- G:0.00NA 2
    rs745688241,2
    		F,--87335218(+) GGGGGG/CTGTTC 2 -- int11Minor allele frequency- C:0.03WA 118
    rs341343261,2
    		C,F,--87335645(-) TTCTGG/AGCCTG 2 -- int16Minor allele frequency- A:0.01MN WA 526
    rs38283651,2
    		C,F,H,--87336025(+) GATAAT/CAAATC 2 -- int16Minor allele frequency- C:0.01EA NS NA 2032
    rs725631411,2
    		F,--87336269(-) AAATAC/TRCTGT 2 -- int17Minor allele frequency- T:0.02MN WA NA 638
    rs725492231,2
    		F--87336468(-) AGAAT-/GAAT  
                GGTTG     		2 -- int15Minor allele frequency- GAAT:0.01MN 404
    rs725508171,2
    		F,--87336972(-) TCATTA/TTATTG 2 -- int15Minor allele frequency- T:0.01MN 408
    rs1116690011,2
    		--87337776(+) ATCAAC/TTCAAA 2 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs357978181,2
    		C,F,--87338606(-) TGATAG/CTTAAT 2 -- int15Minor allele frequency- C:0.01MN 404
    rs1048937571,2
    		C--87338750(-) TCTGCC/TTCTGA 4 P L mis10--------
    rs351821891,2
    		F--87338765(-) TGACGC/TCTCTG 4 A V mis17Minor allele frequency- T:0.01MN NA 412
    rs49884591,2
    		C,H--87338790(-) CTGATA/TCCTTT 4 T S mis1 ese39Minor allele frequency- T:0.00MN NS EA 814
    rs10516121,2
    		C,H--87338810(+) AAGCTT/CGGCAA 4 /Q /R mis113Minor allele frequency- C:0.15MN NS EA NA 1114
    rs352866741,2
    		F--87338976(-) TTGCAG/ATATAA 2 -- us2k15Minor allele frequency- A:0.01MN 408
    rs341061481,2
    		C,--87339254(-) TTGTGT/CTAGTA 2 -- us2k15Minor allele frequency- C:0.01MN 396
    rs351006421,2
    		C,F,--87339783(-) TGTGGC/AACAGA 2 -- us2k15Minor allele frequency- A:0.01MN 404
    rs356710751,2
    		F--87340048(-) AATTAG/ATGTCT 2 -- us2k15Minor allele frequency- A:0.01MN 404
    rs340309961,2
    		C,F,--87340062(-) ATTCCG/ATAGTA 2 -- us2k18Minor allele frequency- A:0.02MN WA CSA 526
    rs773022141,2
    		--87340610(+) TACCAT/GAAAAC 2 -- us2k11Minor allele frequency- G:0.01EA 120
    rs4194041,2
    		H--87340807(-) TTCCAG/AATAAT 2 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs345125631,2
    		----87339433(-) GAGTAT/CGAAWC 2 -- us2k15Minor allele frequency- C:0.01MN 396
    rs4536171,2
    		----87332601(-) TAGTAG/TCAAAT 2 -- int10--------
    rs13869261,2
    		----87329790(+) CCCGGT/GTCATT 2 -- int12Minor allele frequency- G:0.00NA 4
    rs2016668741,2
    		----87315089(+) TCATTG/TTCTTA 2 -- int10--------
    rs340016891,2
    		----87314168(+) AAACG-/CCCCCA 2 -- int10--------
    rs115050281,2
    		----87330434(+) TTTTTC/TCCTTT 2 -- int1 trp30--------
    rs1434718411,2
    		----87311252(+) CATTTG/TGATAA 4 S syn11Minor allele frequency- T:0.00NA 4548
    rs6764421,2
    		----87324899(-) GCCTTA/TTTAAG 2 -- int10--------
    rs2007214981,2
    		----87313961(+) ATTTT-/TCTATC 2 -- int10--------
    rs352908001,2
    		----87310960(+) ATTTT-/TACCCC 2 -- int10--------
    rs748394651,2
    		----87336240(+) TATGAC/ATGAAT 2 -- int11Minor allele frequency- A:0.50NA 2
    rs344442471,2
    		----87326329(+) ATAGG-/GTTGGT 2 -- us2k10--------
    rs344879361,2
    		----87327588(+) AATATA/CCAATA 2 -- int10--------
    rs2013599171,2
    		----87310019(+) TATTT-/TTTTTTT
    ATTTATTTA    TTTAT     		2 -- int10--------
    rs2009284071,2
    		----87324550(+) ATTCAG/TAGCCA 4 Y S mis10--------
    rs1509255661,2
    		----87322535(+) CATAAT/CGACAG 4 /H /R mis11Minor allele frequency- C:0.00NA 4550
    rs1116237431,2
    		----87324831(+) TGAAAG/TAATTC 2 -- int10--------
    rs6075141,2
    		----87330442(-) aaaaaA/Gggaaa 2 -- int1 trp30--------
    rs1999775571,2
    		----87321230(+) TGCGG-/TTTTTT 2 -- int10--------
    rs5095451,2
    		----87324897(+) CACTTC/AATAAG 2 -- int11Minor allele frequency- A:0.00MN 184
    rs2008739151,2
    		----87325573(+) CAGAGG/CTATAA 4 /P /A mis11Minor allele frequency- C:0.00EU 1323
    rs791003041,2
    		----87322695(+) CACGAG/TAGTCA 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1123934731,2
    		----87326404(+) TGGGCG/ACTTCA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1118120131,2
    		----87327189(+) TTTTCC/TCTTAA 2 -- int11Minor allele frequency- T:0.00CSA 2
    rs611854291,2
    		----87323247(+) TTTTT-/TTTTA 
     TTTATTT    ATTTA     		2 -- int10--------
    rs1136156641,2
    		----87323837(+) CAGTCG/TTTTTC 2 -- int11Minor allele frequency- T:0.00CSA 1
    rs342783121,2
    		----87317283(+) CCTAG-/GCTGGA 2 -- int10--------
    rs719357401,2
    		----87310026(+) TATTT-/ATTT  
                ATTTA     		2 -- int10--------
    rs630445611,2
    		----87330444(+) TCCCT-/TTTTTT 2 -- int10--------
    rs351389401,2
    		----87321987(-) CACACA/GCGCAG 2 -- ds50015Minor allele frequency- G:0.01MN 388
    rs348119831,2
    		----87327380(+) ACTGA-/GAGATA 2 -- us2k10--------
    rs106215451,2
    		----87321655(+) GGAAG-/ATAATAA 2 -- ds50010--------
    rs1428370471,2
    		----87313619(+) TGACTC/TAAGGT 4 L syn11Minor allele frequency- T:0.00NA 4528
    rs1997466971,2
    		----87313434(+) AGCACA/GTACCT 2 -- int11Minor allele frequency- G:0.00EU 1301
    rs4154891,2
    		----87332620(-) CAACTC/GTACTG 2 -- int10--------
    rs1447081081,2
    		----87309047(+) TCTTAT/CCTGCA 4 /R syn11Minor allele frequency- C:0.00NA 3990
    rs1130566261,2
    		----87311125(+) AACCC-/CTCAAA 2 -- int11Minor allele frequency- C:0.00CSA 2
    rs2003483701,2
    		----87316297(+) TTATTA/GTTTTC 2 -- int10--------
    rs353654341,2
    		----87326455(+) TATTT-/TAGTAA 2 -- us2k10--------
    rs1442973111,2
    		----87325485(+) TCACAT/CTGGTG 4 /N /S mis11Minor allele frequency- C:0.00NA 4546
    rs1424910101,2
    		----87325532(+) TGATGC/TATTAT 4 I M mis11Minor allele frequency- T:0.00NA 4548
    rs2002497861,2
    		----87313871(+) GAGCAA/GCAAAA 2 -- int10--------
    rs284147051,2
    		----87327308(+) ATGGCA/CCTAAA 2 -- int12Minor allele frequency- C:0.00NA 4
    rs1470954371,2
    		----87313488(+) GTTCTC/GTGATT 4 T R mis11Minor allele frequency- G:0.00NA 4534
    rs2003851791,2
    		----87315010(+) GGGTCC/GTGGAA 2 -- int10--------
    rs634515601,2
    		----87310029(+) TTTTT-/TTT   
       TATTT    ATTTA     		2 -- int10--------
    rs1484067481,2
    		----87322505(+) CCATCA/GCTCCA 4 A V mis11Minor allele frequency- G:0.00NA 4548
    rs98730561,2
    		----87330902(+) TCTGAA/GCCTGC 2 -- int10--------
    rs18258981,2
    		----87330116(+) caccgC/Gcatgc 2 -- int10--------
    rs1122304361,2
    		----87335731(+) ATGGCC/TGGTTT 4 Q R mis11Minor allele frequency- T:0.50CSA 2
    rs1414000891,2
    		----87313512(+) TGTCTA/GTTGGC 4 T I mis11Minor allele frequency- G:0.00NA 4544
    rs11318151,2
    		----87322470(+) AGCATA/CTTTAG 4 D Y mis10--------
    rs349532351,2
    		----87339981(+) TATTGG/TATATT 2 -- us2k10--------
    rs345494571,2
    		----87313062(+) CAAGG-/GAACTA 2 -- int10--------
    rs1420463081,2
    		----87313450(+) AATTCG/TTCTCA 4 R syn11Minor allele frequency- T:0.00NA 4474
    rs629395601,2
    		----87310026(+) TATTT-/ATT   
       TATTT    ATTTT     		2 -- int10--------
    rs3940571,2
    		----87332611(+) ACTCAA/TCCCCA 2 -- int11Minor allele frequency- T:0.00MN 184
    rs2014068911,2
    		----87310488(+) GCTATA/CATGTG 2 -- int11Minor allele frequency- C:0.00EU 1135
    rs8011641,2
    		----87328513(+) AGAATA/CCCGTA 2 -- int10--------
    rs1113327541,2
    		----87327357(+) ATTGGG/AAAATT 2 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for POU1F1 (87308554 - 87325737 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for POU1F1: --
    Human Gene Mutation Database (HGMD): POU1F1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing POU1F1
    DNA2.0 Custom Variant and Variant Library Synthesis for POU1F1

    Disorders / Diseases
    for POU1F1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    POU1F1 for disorders           About GeneDecksing

    OMIM gene information: 173110   
    OMIM disorders: 613038  
    UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069
  • Defects in POU1F1 are the cause of pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]. CPHD is
    • characterized by impaired production of growth hormone (GH) and one or more of the other five anterior pituitary
    hormones

    20/41 diseases for POU1F1 (see all 41):    About MalaCards
    pituitary hormone deficiency    combined pituitary hormone deficiency    borjeson-forssman-lehmann syndrome    pituitary hormone deficiency, combined 1
    growth hormone deficiency    isolated growth hormone deficiency    glycogen storage disease iv    islet cell tumor
    acth deficiency    short stature    pancreatic islet cell tumors    pituitary adenoma
    glycogen storage disease    delayed puberty    panhypopituitarism    congenital hypothyroidism
    dwarfism    hypopituitarism    hypothyroidism    pituitary hypoplasia

    4 diseases from the University of Copenhagen DISEASES database for POU1F1:
    Hypopituitarism     Pituitary hypoplasia     Holoprosencephaly     Hypothyroidism

    10/29 Novoseek disease relationships for POU1F1 gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    panhypopituitarism 95.5 73 9632165 (2), 16263824 (2), 1472057 (2), 10698595 (2) (see all 56)
    tsh deficiency 91.6 14 9632165 (3), 16735499 (2), 18174732 (2), 9626142 (1) (see all 10)
    septo-optic dysplasia 85.1 1 15670191 (1)
    hormone deficiency 83.9 10 7920987 (2), 15844473 (1), 11222742 (1), 19407506 (1) (see all 9)
    pituitary adenoma 80.8 58 8834538 (4), 8148036 (4), 8246449 (3), 11081207 (3) (see all 26)
    hypopituitarism 79.4 9 1509263 (2), 18157385 (1), 10549299 (1), 9686002 (1) (see all 7)
    dwarfism pituitary 74 1 7920987 (1)
    acth deficiency 70.5 3 12780757 (1), 17162714 (1), 15928241 (1)
    pituitary tumors 70.2 10 11081157 (2), 16189248 (2), 8027225 (1), 10404841 (1) (see all 6)
    prolactin deficiency 67.8 1 9627600 (1)

    Genetic Association Database (GAD): POU1F1
    Human Genome Epidemiology (HuGE) Navigator: POU1F1 (14 documents)

    Export disorders for POU1F1 gene to outside databases