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

MYL1 Gene

protein-coding   GIFtS: 63
GCID: GC02M211118

Myosin, Light Chain 1, Alkali; Skeletal, Fast

(Previous names: myosin, light polypeptide 1, alkali; skeletal, fast)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Myosin, Light Chain 1, Alkali; Skeletal, Fast1 2     MLC1F2
Myosin, Light Polypeptide 1, Alkali; Skeletal, Fast1 2     MLC3F2
Myosin Light Chain A1/A22 3     A1 Catalytic2
Myosin Light Chain Alkali 1/22 3     A2 Catalytic2
MLC1/MLC32 3     Myosin Light Chain 1/3, Skeletal Muscle Isoform2
MLC1F/MLC3F2 3     

External Ids:    HGNC: 75821   Entrez Gene: 46322   Ensembl: ENSG000001685307   OMIM: 1607805   UniProtKB: P059763   

Export aliases for MYL1 gene to outside databases

Previous GC identifers: GC02M209430 GC02M209879 GC02M211357 GC02M210980 GC02M210863 GC02M203000


(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 MYL1 Gene:
Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable
alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light
chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for MYL1 Gene: 
MYL1 (myosin, light chain 1, alkali; skeletal, fast) is a protein-coding gene. Diseases associated with MYL1 include rhabdomyosarcoma, and influenza, and among its related super-pathways are Striated Muscle Contraction and Immune response CCR3 signaling in eosinophils. GO annotations related to this gene include structural constituent of muscle and calcium ion binding. An important paralog of this gene is MYL4.

UniProtKB/Swiss-Prot: MYL1_HUMAN, P05976
Function: Regulatory light chain of myosin. Does not bind calcium

summary for MYL1 Gene:
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding
and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),
almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain
that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts
with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory
myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.
Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is
involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a
contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by
intracellular Ca2+ concentrations.

Gene Wiki entry for MYL1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYL1 gene promoter:
         ER-alpha   STAT2   STAT1beta   c-Myb   Tal-1beta   STAT1alpha   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MYL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYL1


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

Entrez Gene cytogenetic band: 2q33-q34   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2q33-q34

MYL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M211118:  view genomic region     (about GC identifiers)

Start:
211,154,868 bp from pter      End:
211,179,914 bp from pter
Size:
25,047 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYL1_HUMAN, P05976 (See protein sequence)
Recommended Name: Myosin light chain 1/3, skeletal muscle isoform  
Size: 194 amino acids; 21145 Da
Subunit: Myosin is a hexamer of 2 heavy chains and 4 light chains
Secondary accessions: B2R4N6 B2R4T6 P06741 Q6IBD5
Alternative splicing: 2 isoforms:  P05976-1   P05976-2, P06741-1   (Initiator Met-1 is removed. Contains a N-acetylalanine at position 2 (By similarity))

Explore the universe of human proteins at neXtProt for MYL1: NX_P05976

Explore proteomics data for MYL1 at MOPED 

Post-translational modifications:

  • UniProtKB: Isoform MLC3 is acetylated at position 2 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05976

  • MYL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_524144.1  NP_524146.1  

    ENSEMBL proteins: 
     ENSP00000343321   ENSP00000307280  
    Reactome Protein details: P05976
    Human Recombinant Protein Products for MYL1: 
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    Cloud-Clone Corp. Proteins for MYL1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005859muscle myosin complex NAS3904738
    GO:0030016myofibril IDA8145163
    GO:0030017sarcomere NAS3904738
    GO:0043292contractile fiber ----

    MYL1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for MYL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing
    MYL: Myosins / Light chain

    2 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry P05976

    ProtoNet protein and cluster: P05976

    UniProtKB/Swiss-Prot: MYL1_HUMAN, P05976
    Similarity: Contains 3 EF-hand domains


    MYL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYL1_HUMAN, P05976
    Function: Regulatory light chain of myosin. Does not bind calcium

         Genatlas biochemistry entry for MYL1:
    myosin,light polypeptide 1,alkali;skeletal,fast,same as MLC1-F & MLC3-F

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0008307structural constituent of muscle NAS3904738
         
    MYL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYL1:
     Increased G1 DNA content 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Myl1):
     behavior/neurological  cellular  embryogenesis  growth/size  mortality/aging 
     muscle  nervous system  normal  skeleton 

    MYL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Myl1tm1Nros for MYL1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYL1 

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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYL1 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Muscle contraction0.65
    Striated Muscle Contraction0.87
    2Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    Inhibitory action of Lipoxins on neutrophil migration0.51
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    4PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    5Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin-mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/7 EMD Millipore Pathways for MYL1 (see all 7)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Tight junctions
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils

    5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYL1 (see all 16)
        Activation of PKA through GPCR
    RhoA Pathway
    PKA Signaling
    Guidance Cues and Growth Cone Motility
    Antioxidant Action of Vitamin-C

    5/8 GeneGo (Thomson Reuters) Pathways for MYL1 (see all 8)
        Signal transduction Activation of PKC via G-Protein coupled receptor
    Cell adhesion Integrin-mediated cell adhesion and migration
    Inhibitory action of Lipoxins on neutrophil migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils

    4 BioSystems Pathways for MYL1
        G13 Signaling Pathway
    Regulation of Actin Cytoskeleton
    Striated Muscle Contraction
    Endothelin

    2        Reactome Pathways for MYL1
        Muscle contraction
    Striated Muscle Contraction



    MYL1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/50 Interacting proteins for MYL1 (P059763 ENSP000003072804) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPB41P111713, ENSP000002901004I2D: score=1 STRING: ENSP00000290100
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    ACTA2P627363, ENSP000002247844I2D: score=1 STRING: ENSP00000224784
    IL7RP168713I2D: score=1 
    SLC2A4P146723I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction IDA8145163
    GO:0007517muscle organ development NAS--
    GO:0030049muscle filament sliding TAS--
    GO:0060048cardiac muscle contraction IEA--

    MYL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for MYL1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BTSSelective inhibitor of skeletal muscle myosin II ATPase activity[1576-37-0]
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760)[1177356-70-5]
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (+-)-BlebbistatinSelective inhibitor of myosin II ATPase activity[674289-55-5]

    1 HMDB Compound for MYL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about MYL1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYL1 gene (2 alternative transcripts): 
    NM_079420.2  NM_079422.2  

    Unigene Cluster for MYL1:

    Myosin, light chain 1, alkali; skeletal, fast
    Hs.187338  [show with all ESTs]
    Unigene Representative Sequence: BF790783
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341685(uc002veb.3) ENST00000352451(uc002vec.3) ENST00000496436
    ENST00000484290
    miRNA
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    Additional mRNA sequence: 

    AK311892.1 AK311942.1 BC005318.1 CR456869.1 M20643.1 X05451.1 

    11 DOTS entries:

    DT.451890  DT.100646912  DT.95136953  DT.120988964  DT.92458835  DT.100646906  DT.87046784  DT.100028901 
    DT.120988967  DT.120988980  DT.92012066 

    24/414 AceView cDNA sequences (see all 414):

    CR598137 F28438 F35245 BM720926 W92584 F30858 F25010 BM697229 
    F31880 AA176940 AL598940 F29303 BU735911 F34766 BF589612 AU099573 
    F35530 F27414 F30560 F32732 F29961 BM678556 BU581245 N69926 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MYL1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
    SP1:                                                                        
    SP2:                    -     -     -                                       
    SP3:              -     -     -     -     -     -     -                     
    SP4:                          -                                             


    ECgene alternative splicing isoforms for MYL1

    (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

    MYL1 expression in normal human tissues (normalized intensities)      MYL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCAACAAA
    MYL1 Expression
    About this image


    MYL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 10 entries
             Mononuclear Myocytes Hyoid Arch Muscles
             Human Skeletal Muscle Satellite Cells (HSkMSC)   
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
             limb/hindlimb/leg   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiomyocytes Atrial Septum
     
     Smooth Muscle (Muscoskeletal System)
             Human Bladder Smooth Muscle Cells (HBdSMC)   

    See MYL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYL1

    SOURCE GeneReport for Unigene cluster: Hs.187338
        SABiosciences Custom PCR Arrays for MYL1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYL1

    (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 animals and fungi.

    Orthologs for MYL1 gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myl11 , 5 myosin, light polypeptide 11, 5 87.94(n)1
    94.15(a)1
      1 (33.71 cM)5
    179011  NM_021285.31  NP_067260.11 
     669242955 
    chicken
    (Gallus gallus)
    Aves MYL11 myosin, light chain 1, alkali; skeletal, fast 78.89(n)
    80.67(a)
      396470  NM_001044632.1  NP_001038097.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYL16
    Uncharacterized protein
    84(a)
    1 ↔ 1
    1(113465920-113497825)
    African clawed frog
    (Xenopus laevis)
    Amphibia myl1-prov2 myosin light chain, alkali, fast skeletal muscle 79.94(n)    L38596.1 
    zebrafish
    (Danio rerio)
    Actinopterygii myl11 myosin, light chain 1, alkali; skeletal, fast 66.67(n)
    64.74(a)
      336165  NM_200000.1  NP_956294.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mlc-c3 myosin ATPase 53(a)   5A8   --
    worm
    (Caenorhabditis elegans)
    Secernentea T12D8.63
    mlc-31
    EF hand3
    Protein MLC-31
    48(a)3
    53.66(n)1
    45.39(a)1
      III(13694513-13695376)3
    1757681  NM_171128.61  NP_741145.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MLC11 Mlc1p 50.49(n)
    38.97(a)
      852772   NP_011409.1 


    ENSEMBL Gene Tree for MYL1 (if available)
    TreeFam Gene Tree for MYL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYL1 gene
    MYL42  MYL6B2  MYL62  MYL32  
    18 SIMAP similar genes for MYL1 using alignment to 3 protein entries:     MYL1_HUMAN (see all proteins):
    MYL6    MYL3    MYL4    MYL6B    CALML3    CALM3
    CALM1    CALM2    CETN2    CABP1    CETN1    TNNC2
    CALML5    TNNC1    EFCAB2    CABP2    CALML6    CETN3

    MYL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    455/596 SNPs in MYL1 are shown (see all 596)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1837718571,2
    --211154446(+) CCATCA/CCAGAG 2 -- ds50010--------
    rs1905540361,2
    --211154559(+) ATTGTC/TACTAG 2 -- ds50010--------
    rs130202321,2
    C,F,H--211154625(+) GTTTTC/TGCTTT 2 -- ds500113Minor allele frequency- T:0.07NS EA NA WA 1056
    rs1822277871,2
    C--211154753(+) GTAGAC/TTTCAG 2 -- ds50010--------
    rs1867702861,2
    --211154989(+) TTCTCA/TTCTAG 2 -- ut310--------
    rs1916936021,2
    --211155050(+) GAAGAC/TGTATA 2 -- ut310--------
    rs1814848991,2
    --211155085(+) TGAACC/TGTCCA 2 -- ut310--------
    rs758797361,2
    F--211155308(+) CACTTA/GCAAGA 2 -- int11Minor allele frequency- G:0.01WA 118
    rs766711231,2
    C,F--211155321(+) AGCCAA/GTTCCT 2 -- int11Minor allele frequency- G:0.04WA 118
    rs1154803461,2
    F--211155648(+) ATCTCG/ATAATT 2 -- int11Minor allele frequency- A:0.03WA 118
    rs3738201651,2
    C--211155714(+) ACAATA/GTCAAG 2 -- int10--------
    rs2022235531,2
    --211155724(+) GAAATC/GCTTAA 2 -- int10--------
    rs1855780531,2
    C--211155741(+) AAGAGA/GGAACT 2 -- int10--------
    rs2010589641,2
    --211155748(+) AACTGC/GTATAT 2 -- int10--------
    rs2005588521,2
    --211155785(+) ATGATA/GTGCTT 4 H syn10--------
    rs1997347511,2
    C--211155843(+) AGGAAA/CCAGTC 2 -- int11Minor allele frequency- C:0.00EU 1271
    rs1456781871,2
    --211155936(+) GGTGTA/GTATAG 2 -- int10--------
    rs1427255781,2
    C--211156128(+) ACTACA/GGGCAC 2 -- int10--------
    rs1442371531,2
    C--211156131(+) ACGGGA/CACATG 2 -- int10--------
    rs1900895961,2
    --211156159(+) GGTTAA/CAATAT 2 -- int10--------
    rs1823240001,2
    C--211156164(+) AAATAC/TTTTCT 2 -- int10--------
    rs745529291,2
    F--211156225(+) CTAGGC/TAACTG 2 -- int11Minor allele frequency- T:0.02EA 120
    rs1877058901,2
    --211156426(+) GCAGAG/TAATTT 2 -- int10--------
    rs1483699561,2
    --211156444(+) ATACAC/TTGATA 2 -- int10--------
    rs1166436631,2
    F--211156452(+) ATAGAC/TATTCG 2 -- int11Minor allele frequency- T:0.01WA 118
    rs1142669261,2
    C,F--211156495(+) TACTTT/GGATGG 2 -- int11Minor allele frequency- G:0.07WA 118
    rs1415857841,2
    --211156500(+) TGATGA/GACATT 2 -- int10--------
    rs113890141,2
    C--211156513(+) AAAAAA/-TTTGG 2 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs67367501,2
    C,F,A,H--211156528(+) tggcaA/Gttatg 2 -- int125Minor allele frequency- G:0.50NS EA NA WA CSA 2764
    rs1142497611,2
    C,F--211156617(+) AGAAGT/CAGATT 2 -- int11Minor allele frequency- C:0.03WA 118
    rs1919653801,2
    --211156683(+) CATCAA/GTGATA 2 -- int10--------
    rs67397861,2
    C,A--211156685(+) tcagtG/Aataca 2 -- int18Minor allele frequency- A:0.42NA WA CSA EA 367
    rs1839306791,2
    --211156692(+) TACATA/GAAATT 2 -- int10--------
    rs1400617601,2
    C--211156702(+) TGCCTA/GTTTCC 2 -- int10--------
    rs1458205201,2
    C--211156794(+) TTTTA-/TATTATTA 2 -- int10--------
    rs1440431971,2
    --211156903(+) TTCTCA/GTGCCT 2 -- int10--------
    rs1884468241,2
    --211156959(+) GCCCAC/GCTAAT 2 -- int10--------
    rs347438231,2
    C--211157118(+) TTGCT-/A/TTTTTA 2 -- int10--------
    rs746231441,2
    C--211157118(+) TTTGCA/TTTTTA 2 -- int10--------
    rs1158789801,2
    F--211157234(+) TTGTAG/ATAGTT 2 -- int11Minor allele frequency- A:0.03WA 118
    rs359437461,2
    C--211157282(+) TTGAA-/TTTTTT 2 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs1931916991,2
    --211157380(+) TTTCAA/TTGCCG 2 -- int10--------
    rs1844564971,2
    --211157384(+) AATGCA/CGTCTG 2 -- int10--------
    rs759137641,2
    C,F--211157385(+) ATGCCG/ATCTGG 2 -- int11Minor allele frequency- A:0.03EA 120
    rs739843741,2
    C,F--211157446(+) AATTCT/CTCTGT 2 -- int12Minor allele frequency- C:0.06WA 120
    rs21364571,2
    C,F,A,H--211157449(+) TCTTCT/CGTGAT 2 -- int114Minor allele frequency- C:0.46NS EA NA WA CSA 789
    rs124794261,2
    C,F,H--211157570(+) TTCAAT/ACAGTA 2 -- int11Minor allele frequency- A:0.50NA 4
    rs1471641041,2
    C--211157599(+) ATGGAG/TTGTAT 2 -- int10--------
    rs19630891,2
    C,F,A,H--211157687(+) GCTTGA/GCTAAG 2 -- int15Minor allele frequency- G:0.18NA WA CSA 11
    rs1143714841,2
    C,F--211157688(+) CTTGGC/TTAAGC 2 -- int11Minor allele frequency- T:0.02NA 120
    rs1917510971,2
    --211157865(+) TTAAAC/TTTGTA 2 -- int10--------
    rs1381343411,2
    C--211157971(+) ACTGT-/GGGGCT 2 -- int10--------
    rs1838335031,2
    --211158084(+) GGCCCA/GAAGTT 2 -- int10--------
    rs3746545031,2
    C--211158150(+) ATATTC/GTATTA 2 -- int10--------
    rs1892710621,2
    C--211158188(+) AACTCA/GTAGGG 2 -- int10--------
    rs1822120381,2
    --211158195(+) AGGGAC/TGTTCT 2 -- int10--------
    rs778308661,2
    C,F--211158200(+) TGTTCT/CGAAGA 2 -- int11Minor allele frequency- C:0.08WA 118
    rs1388270661,2
    C--211158777(+) CCAAT-/ATTTT 
    AAGTTAAC
    ATTTT
    2 -- int10--------
    rs134275491,2
    C,F--211158848(+) GACTAT/ATTTTT 2 -- int1 trp32Minor allele frequency- A:0.14WA 120
    rs713507371,2
    C,F--211158855(+) TTTTTT/CTCCCA 2 -- int17Minor allele frequency- C:0.17NA WA CSA 249
    rs1858215861,2
    C--211158926(+) TTTCTA/GTATAT 2 -- int10--------
    rs1390302101,2
    C--211159037(+) AGACAC/TGCAGA 4 H R mis11Minor allele frequency- T:0.00NA 4550
    rs1160544441,2
    C--211159061(+) CTTCAT/CAGGTG 4 /Y /C mis12Minor allele frequency- C:0.00NA 4670
    rs1396375761,2
    C--211159063(+) TCATAG/TGTGGC 4 T syn11Minor allele frequency- T:0.00NA 4550
    rs67482251,2
    C,H--211159175(+) ATTAGC/ATACCA 2 -- int15Minor allele frequency- A:0.02NS EA WA 524
    rs1441513811,2
    --211159289(+) AAGAAC/TATGGT 2 -- int10--------
    rs1454717281,2
    C--211159340(+) CTTTTA/GTTCCC 2 -- int10--------
    rs787680511,2
    C,F--211159345(+) ATTCCC/TAGTCT 2 -- int11Minor allele frequency- T:0.06EA 120
    rs1816923871,2
    --211159353(+) TCTACA/CATTTG 2 -- int10--------
    rs19958351,2
    C,F,A,H--211159509(+) TAAGTG/TTTAGC 2 -- int19Minor allele frequency- T:0.42NA WA CSA EA 369
    rs75583941,2
    C,F,A,H--211159573(+) AAAAAT/CGCACT 2 -- int114Minor allele frequency- C:0.41NA WA CSA EA 687
    rs1484724891,2
    C--211159596(+) ACTCAC/TTAGTG 2 -- int10--------
    rs1858209311,2
    --211159641(+) TCCACA/CTTTGT 2 -- int10--------
    rs1885756171,2
    --211159652(+) CCCCAC/GCTTTT 2 -- int10--------
    rs19958361,2
    C,F,O,A,H--211159671(+) TTCCCT/GTTCTT 2 -- int129Minor allele frequency- G:0.49MN NS EA NA WA CSA 3085
    rs1426724041,2
    --211159782(+) CAGGAC/GATGAT 2 -- int10--------
    rs1153652301,2
    C,F--211159784(+) GGAGAT/CGATAG 2 -- int11Minor allele frequency- C:0.03WA 118
    rs1810261851,2
    --211160007(+) TAAATG/TAGTAT 2 -- int10--------
    rs1860318381,2
    C--211160221(+) AAAAAA/GGGCCA 2 -- int10--------
    rs1909091091,2
    --211160625(+) CTCATA/GCTCTT 2 -- int10--------
    rs1825261201,2
    --211160753(+) TTTCAA/GCTGTC 2 -- int10--------
    rs1875934911,2
    --211160754(+) TTCAAA/CTGTCA 2 -- int10--------
    rs1453009841,2
    C--211160782(+) ATTTGG/TTATCT 2 -- int10--------
    rs1410019111,2
    --211160839(+) TATCTA/CCTTGA 2 -- int10--------
    rs130259111,2
    C,F,H--211160883(+) ttttcG/Aattga 2 -- int19Minor allele frequency- A:0.08NS EA NA WA CSA 535
    rs1910328501,2
    --211160912(+) ATTTAC/TGGGGT 2 -- int10--------
    rs67499961,2
    C,F,A,H--211161086(+) agtgcT/Gttaga 2 -- int122Minor allele frequency- G:0.13NS EA NA WA CSA 2271
    rs1448186351,2
    --211161103(+) GAACTA/CTTCCT 2 -- int10--------
    rs1465641891,2
    --211161121(+) AGTTAC/TAATTT 2 -- int10--------
    rs1119675611,2
    F--211161132(+) TGTATT/CCATTT 2 -- int12Minor allele frequency- C:0.04CSA WA 120
    rs67351541,2
    C,F,A,H--211161154(+) gctatG/Ctctta 2 -- int132Minor allele frequency- C:0.45NS EA NA WA CSA 3307
    rs1413113741,2
    C--211161206(+) GGAAGC/TGGCAT 2 -- int10--------
    rs1831804691,2
    --211161307(+) AGTTCA/GAGACC 2 -- int10--------
    rs1873878181,2
    --211161379(+) GCTGGC/GTGTGG 2 -- int10--------
    rs67352921,2
    C,F,A--211161390(+) tggtgC/Tacatc 2 -- int15Minor allele frequency- T:0.09WA NA CSA 243
    rs622030031,2
    C--211161442(+) TATTCA/GGAACC 2 -- int14Minor allele frequency- G:0.31NA WA EA 360
    rs1917931781,2
    C--211161583(+) AGATTC/GTACAT 2 -- int10--------
    rs1441904711,2
    C--211161716(+) TGTGT-/GT/TG 
            
    ACATA
    2 -- int10--------
    rs360734401,2
    C--211161717(+) TGTGT-/GTACATA 2 -- int12Minor allele frequency- GT:0.00NA CSA 4
    rs2016522811,2
    C--211161739(+) TGTGTA/GTACAT 2 -- int10--------
    rs2001120881,2
    C--211161740(+) GTGTGC/TACATA 2 -- int10--------
    rs2020699581,2
    C--211161742(+) GTGTAC/TATATA 2 -- int10--------
    rs357614331,2
    C--211161744(+) ATATA-/TACATAT 2 -- int11Minor allele frequency- TA:0.00NA 2
    rs1831601541,2
    --211161789(+) TATCCA/TTTCAT 2 -- int10--------
    rs1879151911,2
    --211161815(+) TATGTG/TGATTC 2 -- int10--------
    rs1927705971,2
    C--211161869(+) TACAGA/TCTTTT 2 -- int10--------
    rs1843336651,2
    C--211161929(+) TGCTGG/TATCAT 2 -- int10--------
    rs1907942461,2
    C--211161967(+) TAAACC/TGTACT 2 -- int10--------
    rs1501846991,2
    --211161980(+) TTTCCA/TCAATG 2 -- int10--------
    rs23708841,2
    C,F--211162161(+) aaataC/Tatctg 2 -- int18Minor allele frequency- T:0.43NA WA EA 368
    rs357020271,2
    C--211162246(+) GGGTTA/TTTTTT 2 -- int12Minor allele frequency- T:0.00NA 4
    rs346938791,2
    C--211162254(+) TTTTT-/TGGCTG 2 -- int11Minor allele frequency- T:0.00NA 2
    rs1923283301,2
    --211162289(+) ATTAAA/TCCCTT 2 -- int10--------
    rs42616681,2
    C,F,A,H--211162312(+) GCAAAT/CGTGTC 2 -- int124Minor allele frequency- C:0.19NS EA NA 2768
    rs766315661,2
    C,F--211162360(+) AGACTA/GTTATA 2 -- int11Minor allele frequency- G:0.07NA 120
    rs1387099151,2
    --211162377(+) AATAAA/GACCAT 2 -- int10--------
    rs1161366211,2
    C,F--211162514(+) TCCTTT/CGACAC 2 -- int11Minor allele frequency- C:0.08WA 118
    rs1493584191,2
    --211162675(+) ACTCAC/GAATTG 2 -- int10--------
    rs802896011,2
    C,F--211162738(+) CCTTTG/TAAGAT 2 -- int11Minor allele frequency- T:0.04WA 118
    rs1438173091,2
    --211162811(+) ACATTC/TGAAAT 2 -- int10--------
    rs1385876881,2
    C--211162812(+) CATTCA/GAAATG 2 -- int10--------
    rs1439489821,2
    --211162843(+) TTCTAA/TTATCT 2 -- int10--------
    rs1153075671,2
    F--211162886(+) TACCAC/TGCTTG 2 -- int11Minor allele frequency- T:0.02WA 118
    rs346935931,2
    C,F--211162907(+) AAGGAA/CGTTTA 2 -- int16Minor allele frequency- C:0.17WA NA CSA 245
    rs1148247521,2
    C,F--211162928(+) TAAAGC/AAAAAA 2 -- int11Minor allele frequency- A:0.03WA 118
    rs75920601,2
    C,F,A--211162998(+) ATTATG/ATGAAA 2 -- int19Minor allele frequency- A:0.41NA CSA WA EA 477
    rs1128947081,2
    C--211163063(+) ATACT-/AC/ACACA
    C
    /ACACACAC
    ACACA
    4 -- int1 cds11CSA 2
    rs1503293211,2
    C--211163064(+) ATACT-/ACACACA 2 -- int10--------
    rs3748243101,2
    C--211163092(+) CACAC-/TGCT  
            
    ACACA
    2 -- int10--------
    rs2007161201,2
    --211163104(+) CACTTC/TCCTAT 2 -- int10--------
    rs1843394111,2
    C--211163118(+) TCCACA/GCTTCT 2 -- int10--------
    rs1415907301,2
    C,F--211163209(+) GAGCTC/TGAAGG 4 Q R mis12Minor allele frequency- T:0.00NA EU 5873
    rs1432743931,2
    F--211163217(+) AGGACA/GTCACC 4 D syn11Minor allele frequency- G:0.00NA 4552
    rs1998433261,2
    C--211163222(+) ATCACC/TGACCT 4 S G mis10--------
    rs1133789501,2
    C--211163289(+) AATTCA/TGCAAA 2 -- spa11Minor allele frequency- T:0.00CSA 1
    rs2022212961,2
    --211163332(+) TCTAAC/TCTATT 2 -- int10--------
    rs1472998661,2
    --211163403(+) ACTATA/GCAAGT 2 -- int10--------
    rs1403690301,2
    --211163491(+) AACAGC/TATTTC 2 -- int10--------
    rs1112984941,2
    F--211163559(+) ATTCAC/TATTTC 2 -- int12Minor allele frequency- T:0.50CSA 4
    rs20633111,2
    C,F,A,H--211163574(-) TCCAGA/G/TCAGGT 2 -- int114MN NS EA NA WA CSA 854
    rs20633101,2
    C,F,A--211163582(-) TCCAGG/ATTTCC 2 -- int19Minor allele frequency- A:0.42NA WA CSA EA 369
    rs1412119961,2
    --211163631(+) AATCTC/GTCATA 2 -- int10--------
    rs1160081931,2
    C,F--211163688(+) AGGCTC/TATGGT 2 -- int11Minor allele frequency- T:0.05WA 118
    rs1888164041,2
    --211163891(+) AATCAG/TTTCAG 2 -- int10--------
    rs1812426801,2
    --211164032(+) TATGGA/GGAAAA 2 -- int10--------
    rs1867145761,2
    --211164097(+) CTGCCC/TGGTAT 2 -- int10--------
    rs1894957451,2
    --211164118(+) TAACAG/TTTTGC 2 -- int10--------
    rs1507537551,2
    C--211164199(+) TTGCTC/TGATTC 2 -- int10--------
    rs1810852291,2
    --211164222(+) TGTATA/GTATTA 2 -- int10--------
    rs1390115471,2
    --211164275(+) AAAGTC/GTTCTC 2 -- int10--------
    rs1859268621,2
    --211164340(+) TTTGAA/TAGAAC 2 -- int10--------
    rs1474082791,2
    C--211164652(+) TCCTC-/CCT   
       CCCCT
    AATCT
    2 -- int10--------
    rs1910771491,2
    --211164656(+) CCCTCC/TCCTAA 2 -- int10--------
    rs1498899861,2
    --211164729(+) AAACTG/TCCCCC 2 -- int10--------
    rs118980861,2
    C,F,H--211164763(+) CAGATC/TAATTC 2 -- int17Minor allele frequency- T:0.06NS EA WA CSA 541
    rs1832235681,2
    --211164770(+) ATTCCC/TTAAGC 2 -- int10--------
    rs756769541,2
    C--211164783(+) AAAAAA/C/TTTGCT 2 -- int10--------
    rs1123533521,2
    C--211164783(+) AAAAA-/CTTGCT 2 -- int11Minor allele frequency- C:0.00CSA 2
    rs134166561,2
    C,F,H--211164855(+) CTGAAC/ATATTC 2 -- int19Minor allele frequency- A:0.04NS EA NA WA 1210
    rs46735101,2
    C,F,A,H--211164884(+) TTTCAC/TGGACA 2 -- int124Minor allele frequency- N:0.00EA NA NS 2858
    rs46725681,2
    C,F,A--211164899(+) GCTCAG/ACAGGC 2 -- int110Minor allele frequency- A:0.36NA WA CSA EA 507
    rs622030051,2
    C--211164911(+) CACTAT/CTACCC 2 -- int13Minor allele frequency- C:0.30NA EA 242
    rs1147542051,2
    C,F--211165066(+) TTGAAG/TAATTA 2 -- int11Minor allele frequency- T:0.06WA 118
    rs1450795481,2
    --211165353(+) GCTGCC/TCAAAA 2 -- int10--------
    rs118875421,2
    C,F,H--211165444(+) aattaA/Tttaaa 2 -- int14Minor allele frequency- T:0.16WA NA CSA 125
    rs1162105371,2
    C,F--211165472(+) TGGCTA/TGTGTC 2 -- int11Minor allele frequency- T:0.06WA 118
    rs1399752071,2
    --211165832(+) CTACAA/GTAGTT 2 -- int10--------
    rs1861798971,2
    --211165931(+) AAATCA/GAACAA 2 -- int10--------
    rs1433489551,2
    C--211165953(+) ATCACC/GAACTG 2 -- int10--------
    rs1905053231,2
    --211165958(+) CAACTC/GTTTTC 2 -- int10--------
    rs1833361071,2
    --211165966(+) TTCAAC/TGAGAA 2 -- int10--------
    rs1467308431,2
    --211166022(+) CACCAA/TATCAT 2 -- int10--------
    rs1884518451,2
    --211166271(+) ACTTAC/TGACCA 2 -- int10--------
    rs1121677401,2
    F--211166320(+) CTCCTC/TCTTCC 2 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs1403604461,2
    --211166407(+) TGCTAA/GTGAAA 2 -- int10--------
    rs129889661,2
    H--211166472(+) AAAGGT/GTGACT 2 -- int14Minor allele frequency- G:0.00NS EA 420
    rs1926752221,2
    --211166489(+) GGAAAC/GTATTC 2 -- int10--------
    rs622030061,2
    C--211166560(+) AATTTG/TTAATC 2 -- int14Minor allele frequency- T:0.39WA NA EA 360
    rs1828807211,2
    --211166629(+) TCCTGA/TCACCT 2 -- int10--------
    rs759264691,2
    C,F--211166663(+) TCAGGG/TAGGGG 2 -- int11Minor allele frequency- T:0.05NA 120
    rs1435582531,2
    C--211166910(+) TTGGG-/ATATATA 2 -- int10--------
    rs1864624171,2
    --211166915(+) ATATAG/TATATA 2 -- int10--------
    rs1432785751,2
    --211167044(+) GGGTTA/TCAGAT 2 -- int10--------
    rs1512869131,2
    C--211167121(+) AATTAA/GGAAGA 2 -- int10--------
    rs22923001,2
    C,F,O,A--211167132(+) GCTAAA/TCTCAT 2 -- int111Minor allele frequency- T:0.37NA WA CSA EA 513
    rs1925779961,2
    C--211167168(+) GCCATC/GTTTAT 2 -- int10--------
    rs1404416971,2
    C,F--211167237(+) AACTCG/AATCTG 3 /I int1 syn11Minor allele frequency- A:0.00NA 4536
    rs2010926091,2
    --211167274(+) GTTTTA/TACCAA 2 -- int10--------
    rs1504053811,2
    --211167374(+) TCAGGC/GGTAGC 2 -- int10--------
    rs1845638451,2
    C--211167502(+) ATCTGG/TTCAGC 3 E D mis1 int10--------
    rs1492777441,2
    C,F--211167512(+) CACTGA/CAGGAC 3 C F mis1 int11Minor allele frequency- C:0.00NA 4268
    rs2018716231,2
    --211167539(+) AGAAAG/TAAAGA 2 -- int10--------
    rs2014387131,2
    C--211167540(+) GAAAGA/GAAGAA 2 -- int10--------
    rs1892716191,2
    --211167603(+) TCTGAC/GATTTT 2 -- int10--------
    rs168442881,2
    C,F--211167715(+) TTCTGC/TATCTT 2 -- int111Minor allele frequency- T:0.37NA WA CSA EA 513
    rs730676281,2
    C,F--211167802(+) ATACAC/TGGTGT 2 -- int12Minor allele frequency- T:0.09WA 120
    rs1922244981,2
    --211167821(+) AGATAC/TACACA 2 -- int10--------
    rs359666051,2
    F--211167954(+) TAATGG/TATAAT 2 -- int11Minor allele frequency- T:0.50NA 4
    rs1851649051,2
    --211168101(+) TTTCTC/TCTATC 2 -- int10--------
    rs1900144951,2
    --211168110(+) TCTTTA/CATGGA 2 -- int10--------
    rs1997813091,2
    --211168179(+) TTCCA-/TTTTTT 2 -- int10--------
    rs351796601,2
    C--211168181(+) CCATTC/-TTTGC 2 -- int11Minor allele frequency- -:0.00CSA 2
    rs725440931,2
    C--211168181(+) TCCAT-/CYYTTG 2 -- int10--------
    rs802545441,2
    --211168182(+) CCATTC/TTTGCC 2 -- int10--------
    rs130257001,2
    C,F,H--211168202(+) TCTCAA/GTAAGA 2 -- int118Minor allele frequency- G:0.05NA NS EA WA 2106
    rs1385121421,2
    C,F--211168267(+) CCACCA/GTGATG 3 T M mis1 int11Minor allele frequency- G:0.00NA 4548
    rs1811321231,2
    C,F--211168277(+) GGAGCG/AGCTGG 2 -- ut51 int11Minor allele frequency- A:0.00EU 1321
    rs1441189891,2
    C--211168329(+) GCTCCA/GGTCCC 2 -- ut51 int10--------
    rs124697671,2
    C,F,A,H--211168346(+) GGGTCA/CTCCCT 2 -- us2k1 int129Minor allele frequency- N:0.00NA MN EA NS WA CSA 3817
    rs283659151,2
    C,F--211168359(-) GGAAGC/TCTCAG 2 -- us2k1 int13Minor allele frequency- T:0.04MN EA 1372
    rs1844946211,2
    --211168547(+) CCTGCC/TGGTAC 2 -- us2k1 int10--------
    rs739843821,2
    C,F--211168557(+) CTTTTG/ATGGTC 2 -- us2k1 int11Minor allele frequency- A:0.50WA 2
    rs1819709281,2
    --211168560(+) TTATGA/GTCTTT 2 -- us2k1 int10--------
    rs14729551,2
    C,F,O,A,H--211168638(+) CTTAGA/GATTTC 2 -- us2k1 int122Minor allele frequency- G:0.42NA NS EA WA CSA 2469
    rs1466945181,2
    --211168718(+) GGTATC/TAATGC 2 -- us2k1 int10--------
    rs44916641,2
    H--211168841(+) GCACAT/ATCTGC 2 -- us2k1 int14Minor allele frequency- A:0.00NS EA 420
    rs1865244791,2
    --211168861(+) AGAGCG/TCACCC 2 -- us2k1 int10--------
    rs283659141,2
    C,F--211168919(-) TGCTTG/TCAAAA 2 -- us2k1 int11Minor allele frequency- T:0.04EA 120
    rs118884951,2
    C,F,H--211169163(+) CTGTTT/GCTATT 2 -- us2k1 int121Minor allele frequency- G:0.08NS EA NA WA CSA 1883
    rs1494110231,2
    --211169231(+) GAATGA/CATGGC 2 -- us2k1 int10--------
    rs1910232771,2
    --211169291(+) AGACAA/GAGTCT 2 -- us2k1 int10--------
    rs757142161,2
    F--211169370(+) CAAGTG/CATCTT 2 -- us2k1 int11Minor allele frequency- C:0.07NA 120
    rs119042811,2
    C,F,A,H--211169398(+) AGTAGG/CTAGGA 2 -- us2k1 int110Minor allele frequency- C:0.39NS EA WA NA CSA 781
    rs795759271,2
    --211169435(+) CTAATG/TTTTAT 2 -- us2k1 int10--------
    rs1171558791,2
    F--211169451(+) CTTTTT/GGTAGA 2 -- us2k1 int11Minor allele frequency- G:0.03EA 120
    rs1180955291,2
    F--211169514(+) ATCATC/GCTGCC 2 -- us2k1 int11Minor allele frequency- G:0.01EA 120
    rs118886891,2
    C,F,H--211169532(+) gagatT/Aacagg 2 -- us2k1 int14Minor allele frequency- A:0.00NS EA 420
    rs168443141,2
    C,F,H--211169727(+) ATATTT/CATCAG 2 -- us2k1 int18Minor allele frequency- C:0.01NA NS EA CSA 562
    rs168443171,2
    C,F--211169833(+) TCACAA/GAAAAC 2 -- us2k1 int13Minor allele frequency- G:0.01NA 142
    rs1416065121,2
    --211170037(+) TTTTCA/GTAAAT 2 -- us2k1 int10--------
    rs1459468671,2
    C--211170137(+) ACAAAA/GGTGGA 2 -- us2k1 int10--------
    rs168443181,2
    C,F--211170181(+) TCTTAT/CAATTT 2 -- us2k1 int14Minor allele frequency- C:0.04NA WA 260
    rs751100401,2
    --211170489(+) GTTTAA/GAAGTT 1 -- int10--------
    rs1121028741,2
    C,F--211170527(+) TGCCTT/GTAATC 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs1914254501,2
    --211170550(+) GAGGCC/TGAGGC 1 -- int10--------
    rs1828478741,2
    --211170602(+) CAATAC/TGGAGA 1 -- int10--------
    rs1866972381,2
    --211170611(+) GAAACC/GCTGTC 1 -- int10--------
    rs1462818821,2
    --211170719(+) GTGGAC/TGTTGC 1 -- int10--------
    rs1391463171,2
    --211170753(+) CACTCC/GAACCT 1 -- int10--------
    rs1898405731,2
    --211170844(+) TCATGC/TGTGTA 1 -- int10--------
    rs67250841,2
    C,F,A,H--211170972(+) tggtgG/Acatac 1 -- int121Minor allele frequency- A:0.47NS EA NA WA CSA 2341
    rs1821375401,2
    --211170977(+) ACATAC/TGCCCA 1 -- int10--------
    rs1138340631,2
    C,F--211170987(+) ATAGTC/TGCAGC 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1879534471,2
    --211171023(+) TCACTG/TGAATC 1 -- int10--------
    rs792244971,2
    C,F--211171060(+) AGATCG/ACGCCA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1143515211,2
    C,F--211171061(+) GATCGC/TGCCAT 1 -- int11Minor allele frequency- T:0.05NA 120
    rs130094771,2
    C,F,A--211171092(+) agagcG/Aagact 1 -- int13Minor allele frequency- A:0.00NA CSA 5
    rs346561841,2
    C--211171105(+) ATCTC-/A/AA  
            
    AAAAA
    1 -- int11NA 2
    rs783799801,2
    C,F--211171137(+) TGTTAT/CGAATA 1 -- int12Minor allele frequency- C:0.07WA 120
    rs1930870461,2
    C--211171237(+) TAGTCC/TTTCTC 1 -- int10--------
    rs1853303261,2
    C--211171247(+) CCATAC/TCTTTA 1 -- int10--------
    rs1881895871,2
    C--211171323(+) TTTATG/TTGACA 1 -- int10--------
    rs1173204601,2
    F--211171398(+) ATTCTG/TTGCTC 1 -- int11Minor allele frequency- T:0.01EA 120
    rs1427660871,2
    --211171660(+) ATAATA/GTGAAT 1 -- int10--------
    rs1929561031,2
    C--211171679(+) TCAGCA/TGGTTT 1 -- int10--------
    rs1840369021,2
    --211171701(+) CTCTAC/TGTCAT 1 -- int10--------
    rs1135051861,2
    C,F--211171828(+) GAAACG/ATTTTC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1476711281,2
    --211171997(+) AGCACG/TTCCCT 1 -- int10--------
    rs622030071,2
    C,F--211172004(+) CCCTTG/TCCTTA 1 -- int12Minor allele frequency- T:0.03NA 122
    rs1810621431,2
    C--211172112(+) TATCCG/TAAGCT 1 -- int10--------
    rs729964381,2
    C,F--211172214(+) TATTGT/CTTATG 1 -- int11Minor allele frequency- C:0.02NA 120
    rs1145467101,2
    C,F--211172222(+) ATGTAC/TCTTTA 1 -- int11Minor allele frequency- T:0.01NA 120
    rs1837438291,2
    --211172223(+) TGTACA/CTTTAT 1 -- int10--------
    rs1895027541,2
    --211172235(+) TTTGTA/GGCACC 1 -- int10--------
    rs1423632381,2
    --211172335(+) GCCTAC/TATATT 1 -- int10--------
    rs1819194671,2
    --211172393(+) GTGCTA/GTCAAT 1 -- int10--------
    rs1870428491,2
    C--211172405(+) GATGTC/TGGATT 1 -- int10--------
    rs1914376211,2
    --211172507(+) TAGTAA/GTAATG 1 -- int10--------
    rs118902171,2
    C,F,A,H--211172520(+) ATTAAG/ATTAAC 1 -- int111Minor allele frequency- A:0.50NA WA CSA EA 372
    rs756643461,2
    C,F--211172534(+) TTAAAC/TATCAG 1 -- int12Minor allele frequency- T:0.16NA EA 240
    rs739843841,2
    C,F--211172540(+) ATCAGT/ATAATG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1855925241,2
    C--211172548(+) ATGTAC/TATATT 1 -- int10--------
    rs1163093081,2
    F--211172610(+) ACAAAG/TAATTG 1 -- int11Minor allele frequency- T:0.04WA 118
    rs1468975781,2
    C--211172620(+) GAGTTA/CTAGAA 1 -- int10--------
    rs1901007321,2
    --211172631(+) AAAATA/GTTAAA 1 -- int10--------
    rs1157416511,2
    F--211172741(+) AATACT/CGGGGG 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1823425081,2
    --211172909(+) TTTAAC/TGCCTG 1 -- int10--------
    rs75568211,2
    C,A--211173033(+) TGGAAG/CTCTTA 1 -- int19Minor allele frequency- C:0.49NA WA CSA EA 369
    rs1405453941,2
    C--211173050(+) CTGTGA/CTTCAG 1 -- int10--------
    rs783405261,2
    C--211173101(+) GACTTC/TAACAT 1 -- int10--------
    rs75570431,2
    C,F,A,H--211173237(+) TTTCTG/TCAATA 1 -- int113Minor allele frequency- T:0.12NA NS EA WA 932
    rs1865160451,2
    --211173276(+) AAATTA/GATCTG 1 -- int10--------
    rs1504580361,2
    --211173316(+) ATGAAA/GTCCTA 1 -- int10--------
    rs1379690551,2
    C--211173322(+) TCCTAA/GATCAG 1 -- int10--------
    rs1494884861,2
    --211173333(+) TCAACA/TGAATT 1 -- int10--------
    rs1923092161,2
    --211173395(+) ACAGGA/GACTAA 1 -- int10--------
    rs1999929421,2
    --211173529(+) CATAC-/TATTTTTG 1 -- cds10--------
    rs2015127111,2
    C--211173593(+) TTGTTC/TATTAT 1 -- int10--------
    rs2022311101,2
    C--211173594(+) TGTTCA/TTTATT 1 -- int10--------
    rs351955251,2
    C--211173595(+) TTCAT-/TTCTT 
            
    TATTT
    1 -- int10--------
    rs106263241,2
    C--211173596(+) TCATTCTTTT/
            
    ATTTT
    1 -- int11Minor allele frequency- -:0.00NA 2
    rs786940911,2
    C--211173597(+) TCATTA/CTTTTA 1 -- int10--------
    rs1837384051,2
    --211173669(+) TAAAAG/TTTCCT 1 -- int10--------
    rs116782061,2
    C,F,A,H--211173763(+) TTGTTT/CTAGCT 1 -- int17Minor allele frequency- C:0.08NA WA 430
    rs1459806541,2
    --211173814(+) TCTCAC/TCTAGG 1 -- int10--------
    rs1887277031,2
    --211173846(+) ATATTA/CTACTG 1 -- int10--------
    rs1929729621,2
    --211173883(+) CTACAA/GTGTTG 1 -- int10--------
    rs795212701,2
    F--211173996(+) ATTTAG/AATAAA 1 -- int11Minor allele frequency- A:0.33NA 6
    rs563331581,2
    C--211174003(+) AAACAGGAATT  
     GAACA
    /-
    AAACA
    1 -- int11Minor allele frequency- -:0.00NA 2
    rs64355611,2
    C,F,A,H--211174213(+) ATCATC/ACATAT 1 -- int17Minor allele frequency- A:0.16NA WA 252
    rs1845173791,2
    --211174578(+) GTTTTA/GCTTAA 1 -- int10--------
    rs1462699771,2
    --211174841(+) AAATGG/TATTAA 1 -- int10--------
    rs1873167631,2
    --211174921(+) AAAACA/GAACTT 1 -- int10--------
    rs1916431161,2
    --211174995(+) TAGAAA/GTTGAT 1 -- int10--------
    rs10741581,2
    C,F,O,H--211175043(+) GTTTTA/GTCATA 1 -- int1101Minor allele frequency- G:0.43NA NS EA PA EU CA WA 6746
    rs1166274961,2
    F--211175229(+) AAAACC/TAAAAT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs96468461,2
    C,F,A,H--211175246(+) AAAAAC/TTCAGT 1 -- int18Minor allele frequency- T:0.21NA CSA WA EA 370
    rs67130851,2
    C,F,H--211175315(+) GAAGAT/CGGAAC 1 -- int124Minor allele frequency- C:0.10NS EA NA WA CSA 2098
    rs1159477341,2
    C,F--211175357(+) TATTTC/TACCCT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1484845981,2
    C--211175438(+) AGTGAA/GCAGTC 1 -- int10--------
    rs1144743561,2
    F--211175465(+) GTGAAC/TTTGCT 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1837842231,2
    --211175484(+) TCTGTA/CATCCC 1 -- int10--------
    rs1150466381,2
    C,F--211175490(+) ATCCCC/TTCTTC 1 -- int11Minor allele frequency- T:0.01WA 118
    rs771292171,2
    C--211175546(+) CATACA/CCTTAA 1 -- int10--------
    rs1890505151,2
    C--211175561(+) AAAAAA/GGGCTC 1 -- int10--------
    rs1932659061,2
    --211175602(+) TTTTTA/GTAAAT 1 -- int10--------
    rs1158297911,2
    C,F--211175634(+) GGTTAA/GCACAG 1 -- int11Minor allele frequency- G:0.06WA 118
    rs1505680041,2