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LRRK2 Gene

protein-coding   GIFtS: 66
GCID: GC12P040590

Leucine-Rich Repeat Kinase 2

(Previous name: Parkinson disease (autosomal dominant) 8)
(Previous symbol: PARK8)
  See LRRK2-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)
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Aliases
Leucine-Rich Repeat Kinase 21 2     ROCO22
PARK81 2 3 5     Augmented In Rheumatoid Arthritis 172
Parkinson Disease (Autosomal Dominant) 81     Leucine-Rich Repeat Serine/Threonine-Protein Kinase 22
AURA172     Dardarin3
DARDARIN2     EC 2.7.11.13
RIPK72     

External Ids:    HGNC: 186181   Entrez Gene: 1208922   Ensembl: ENSG000001889067   OMIM: 6090075   UniProtKB: Q5S0073   

Export aliases for LRRK2 gene to outside databases

Previous GC identifers: GC00U914055 GC12P038908 GC12P037646


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LRRK2 Gene:
This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat
region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a
MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the
mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. (provided by
RefSeq, Jul 2008)

GeneCards Summary for LRRK2 Gene:
LRRK2 (leucine-rich repeat kinase 2) is a protein-coding gene. Diseases associated with LRRK2 include lrrk2-related parkinson disease, and parkinson disease 8. GO annotations related to this gene include GTP binding and protein homodimerization activity. An important paralog of this gene is LRRK1.

UniProtKB/Swiss-Prot: LRRK2_HUMAN, Q5S007
Function: May play a role in the phosphorylation of proteins central to Parkinson disease. Phosphorylates PRDX3.
May also have GTPase activity. Positively regulates autophagy through a calcium-dependent activation of the
CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate
(NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes

summary for LRRK2 Gene:
Leucine-rich repeat kinase 2 (LRRK2), also known as dardarin, is a large multidomain protein kinase that
includes leucine-rich repeats and a GTPase domain. LRRK2 is encoded by the PARK8 gene.

Gene Wiki entry for LRRK2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LRRK2 gene promoter:
         STAT5B   AP-1   Nkx2-2   ATF-2   Ik-3   Meis-1b   c-Jun   Meis-1a   GCNF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRRK2 promoter sequence
   Search Chromatin IP Primers for LRRK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LRRK2


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

Entrez Gene cytogenetic band: 12q12   Ensembl cytogenetic band:  12q12   HGNC cytogenetic band: 12q12

LRRK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRRK2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P040590:  view genomic region     (about GC identifiers)

Start:
40,590,546 bp from pter      End:
40,763,087 bp from pter
Size:
172,542 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LRRK2_HUMAN, Q5S007 (See protein sequence)
Recommended Name: Leucine-rich repeat serine/threonine-protein kinase 2  
Size: 2527 amino acids; 286103 Da
Subunit: Homodimer. Interacts with PARK2. Interacts with PRDX3. Interacts with TPCN2
2 PDB 3D structures from and Proteopedia for LRRK2:
2ZEJ (3D)        3D6T (3D)    
Secondary accessions: A6NJU2 Q6ZS50 Q8NCX9

Explore the universe of human proteins at neXtProt for LRRK2: NX_Q5S007

Explore proteomics data for LRRK2 at MOPED

Post-translational modifications: 

  • Autophosphorylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LRRK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_940980.3  
    ENSEMBL proteins: 
     ENSP00000398726   ENSP00000341930   ENSP00000298910   ENSP00000410821  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PARK: Parkinson disease

    IUPHAR Guide to PHARMACOLOGY protein family classification: leucine-rich repeat kinase 2
    Leucine-rich repeat kinase (LRRK) family

    Selected InterPro protein domains (see all 18):
     IPR017441 Protein_kinase_ATP_BS
     IPR011989 ARM-like
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR013684 MIRO-like

    Graphical View of Domain Structure for InterPro Entry Q5S007

    ProtoNet protein and cluster: Q5S007

    2 Blocks protein domains:
    IPB000408 Regulator of chromosome condensation
    IPB013684 Miro-like


    UniProtKB/Swiss-Prot: LRRK2_HUMAN, Q5S007
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family
    Similarity: Contains 12 LRR (leucine-rich) repeats
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 Roc domain


    Find genes that share domains with LRRK2           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LRRK2_HUMAN, Q5S007
    Function: May play a role in the phosphorylation of proteins central to Parkinson disease. Phosphorylates PRDX3.
    May also have GTPase activity. Positively regulates autophagy through a calcium-dependent activation of the
    CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate
    (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11

         Gene Ontology (GO): Selected molecular function terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA--
    GO:0004672protein kinase activity IDA16269541
    GO:0004674protein serine/threonine kinase activity IDA17200152
    GO:0004708MAP kinase kinase activity IDA19302196
    GO:0004713protein tyrosine kinase activity ----
         
    Find genes that share ontologies with LRRK2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for LRRK2:
     Decreased viability with pacli  Upregulation of Wnt/beta-caten 

         15 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Lrrk2):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  nervous system 
     no phenotypic analysis  normal  pigmentation  renal/urinary system  respiratory system 

    Find genes that share phenotypes with LRRK2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for LRRK2: Lrrk2tm1Mjfa Lrrk2tm1.2Npa Lrrk2tm1.1Mjff Lrrk2tm1.1Npa Lrrk2tm1.1Cai Lrrk2tm1Tmd
                                                         Lrrk2tm2.1Shn Lrrk2tm3.1Shn Lrrk2tm1Arte

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    Block miRNA regulation of human, mouse, rat LRRK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LRRK2 (see all 17):
    hsa-miR-607 hsa-miR-181c hsa-miR-301a hsa-miR-130b hsa-miR-181b hsa-miR-301b hsa-miR-205 hsa-miR-181a
    SwitchGear 3'UTR luciferase reporter plasmidLRRK2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LRRK2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LRRK2_HUMAN, Q5S007: Cytoplasm. Membrane; Peripheral membrane protein. Mitochondrion. Note=Localized in the
    cytoplasm and associated with cellular membrane structures. Associates with the mitochondrial outer membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus3
    cytoskeleton2
    lysosome2
    plasma membrane2
    vacuole2
    cytosol1
    endosome1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA16321986
    GO:0005739mitochondrion IDA--
    GO:0005802trans-Golgi network IEA--

    Find genes that share ontologies with LRRK2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LRRK2 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57
    2Wnt Signaling Pathway (WikiPathways)
    Wnt Signaling Pathway and Pluripotency0.55
    3MAPK signaling pathway
    MAPK signaling pathway0.50
    4Parkinsons Disease Pathway
    Parkinsons Disease Pathway
    5Neuroscience
    Neuroscience


    Find genes that share SuperPaths with LRRK2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for LRRK2
        Neuroscience

    3 BioSystems Pathways for LRRK2
        MAPK signaling pathway
    Wnt Signaling Pathway and Pluripotency
    Parkinsons Disease Pathway


    1 Kegg Pathway  (Kegg details for LRRK2):
        Parkinson's disease

        Pathway & Disease-focused RT2 Profiler PCR Array including LRRK2: 
              Parkinson's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LRRK2

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

    Selected Interacting proteins for LRRK2 (Q5S0071, 2, 3 ENSP000002989104) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARK2O602601, 3, ENSP000003558654EBI-5323863,EBI-716346 I2D: score=1 STRING: ENSP00000355865
    AKT1P317491, 2, 3, ENSP000002702024EBI-5323863,EBI-296087 MINT-8177975 MINT-8177865 MINT-8177888 MINT-8177907 MINT-8177924 MINT-8177954 I2D: score=1 STRING: ENSP00000270202
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 40):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade IDA17200152
    GO:0000186activation of MAPKK activity IDA19302196
    GO:0000187activation of MAPK activity IDA19302196
    GO:0001934positive regulation of protein phosphorylation IMP--
    GO:0006184GTP catabolic process IDA--

    Find genes that share ontologies with LRRK2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Compounds for LRRK2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CZC 54252 hydrochloridePotent LRRK2 inhibitor; neuroprotective[1191911-27-9]
    GSK2578215A Potent, selective LRRK2 inhibitor; brain penetrant [1285515-21-0]
    LRRK2-IN-1Potent and selective LRRK2 inhibitor[1234480-84-2]

    3 HMDB Compounds for LRRK2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    4 Novoseek inferred chemical compound relationships for LRRK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    levodopa 35.6 2 17614947 (1), 17427941 (1)
    gtp 35.3 13 17260967 (4), 17706965 (2), 16980962 (1), 19712061 (1) (see all 5)
    dopamine 26.1 6 19625511 (2), 17625107 (1), 19726410 (1), 18272292 (1) (see all 5)
    lipid 1.83 7 17341485 (4)



    Find genes that share compounds with LRRK2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LRRK2 gene: 
    NM_198578.3  

    Unigene Cluster for LRRK2:

    Leucine-rich repeat kinase 2
    Hs.187636  [show with all ESTs]
    Unigene Representative Sequence: NM_198578
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416796 ENST00000343742(uc001rmh.1) ENST00000298910(uc001rmg.4)
    ENST00000474202 ENST00000430804(uc009zjw.3) ENST00000479187(uc001rmi.3)
    ENST00000481256
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    hsa-miR-607 hsa-miR-181c hsa-miR-301a hsa-miR-130b hsa-miR-181b hsa-miR-301b hsa-miR-205 hsa-miR-181a
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      QuantiFast Probe-based Assays in human, mouse, rat LRRK2

    Additional mRNA sequence: 

    AK026776.1 AK122640.1 AK127729.1 AK131537.1 AL832453.2 AL834529.1 AY792511.1 BC117180.1 
    BX640975.1 EF212257.1 

    8 DOTS entries:

    DT.92042415  DT.301521  DT.91844472  DT.95116671  DT.91980049  DT.408537  DT.95338047  DT.65285196 

    Selected AceView cDNA sequences (see all 53):

    AK122640 BU634341 BM280361 AL834529 AW772282 AA906444 BF331667 BF942699 
    AA827621 BX119871 AK127729 AK131537 AA741317 AW237822 AL832453 AW118991 
    BX640975 AV705213 BQ437477 BM998398 AI952066 AA384842 BX499147 AI831901 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LRRK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LRRK2 Expression
    About this image


    LRRK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Oligodendrocyte Precursor Cells Forebrain White Matter
             Thalamus
             Septum   
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Spinal Cord (Nervous System)
    LRRK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LRRK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.187636

    UniProtKB/Swiss-Prot: LRRK2_HUMAN, Q5S007
    Tissue specificity: Expressed throughout the adult brain, but at a lower level than in heart and liver. Also
    expressed in placenta, lung, skeletal muscle, kidney and pancreas. In the brain, expressed in the cerebellum,
    cerebral cortex, medulla, spinal cord occipital pole, frontal lobe, temporal lobe and putamen. Expression is
    particularly high in brain dopaminoceptive areas

        Pathway & Disease-focused RT2 Profiler PCR Array including LRRK2: 
              Parkinson's Disease in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRK2

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for LRRK2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrrk21 , 5 leucine-rich repeat kinase 21, 5 83.27(n)1
    86.69(a)1
      15 (46.07 cM)5
    667251  NM_025730.31  NP_080006.31 
     916731755 
    chicken
    (Gallus gallus)
    Aves LRRK21 leucine-rich repeat kinase 2 73.11(n)
    72.73(a)
      427844  XM_003640340.2  XP_003640388.2 
    lizard
    (Anolis carolinensis)
    Reptilia LRRK26
    leucine-rich repeat kinase 2
    72(a)
    1 ↔ 1
    5(98165490-98290914)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lrrk21 leucine-rich repeat kinase 2 65.86(n)
    63.5(a)
      100145062  XM_002932204.2  XP_002932250.2 
    zebrafish
    (Danio rerio)
    Actinopterygii lrrk21 leucine-rich repeat kinase 2 55.71(n)
    49.76(a)
      559366  NM_001201456.1  NP_001188385.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lrrk6
    Leucine-rich repeat kinase
    18(a)
    1 → many
    3R(16461910-16469856)
    worm
    (Caenorhabditis elegans)
    Secernentea lrk-16
    Protein LRK-1 (lrk-1) mRNA, complete cds
    16(a)
    1 → many
    I(10879766-10894237) WBGene00003068


    ENSEMBL Gene Tree for LRRK2 (if available)
    TreeFam Gene Tree for LRRK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for LRRK2 gene
    LRRK12  
    3 SIMAP similar genes for LRRK2 using alignment to 5 protein entries:     LRRK2_HUMAN (see all proteins):
    DKFZp686E15222    AURA17    STK11

    Find genes that share paralogs with LRRK2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for LRRK2 (see all 4095)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs348056041,2,,4
    CParkinson disease 8 (PARK8)4 pathogenic140537151(+) CAGGGA/GTATGC 2 I V mis12Minor allele frequency- G:0.00NA 4
    rs339399271,2,,4
    CParkinson disease 8 (PARK8)4 pathogenic140548463(+) AGGCTC/G/TGCGCT 3 R G C mis12NA 4
    rs349953761,2,,4
    CParkinson disease 8 (PARK8)4 pathogenic140548464(+) GGCTCG/ACGCTT 2 /H /R mis12Minor allele frequency- A:0.00NA 4
    rs355070331,2,,4
    C,FParkinson disease 8 (PARK8)4 unknown140552005(+) GATCCG/AAGATC 2 /Q /R mis15Minor allele frequency- A:0.01NA EU 5723
    rs339589061,2,,4
    C,FParkinson disease 8 (PARK8)4 unknown140552088(+) ATGTGC/TCAATT 2 P S mis15Minor allele frequency- T:0.02NA EU 5954
    rs7217101,2,,4
    C,HParkinson disease 8 (PARK8)4 unknown140553295(+) CTTTGT/AGGAAC 2 /E /V mis1 ese37Minor allele frequency- A:0.00NA NS EA 504
    rs358014181,2,,4
    CParkinson disease 8 (PARK8)4 pathogenic140559141(+) GCCTTA/GTTTTC 2 Y C mis11Minor allele frequency- G:0.00NA 2
    rs356027961,2,,4
    CParkinson disease 8 (PARK8)4 unknown140561284(+) TATTAT/CGTTGA 2 /T /M mis13Minor allele frequency- C:0.01NA 124
    rs340156341,2,,4
    CParkinson disease 8 (PARK8)4 unknown140578409(+) CATCAT/CTGCAA 2 /T /I mis11Minor allele frequency- C:0.00NA 2
    rs346375841,2,,4
    C,FParkinson disease 8 (PARK8)4 pathogenic140578429(+) ACTACG/AGCATT 2 /S /G mis14Minor allele frequency- A:0.00NA EU 5875
    rs358702371,2,,4
    CParkinson disease 8 (PARK8)4 pathogenic140578433(+) CGGCAT/CTGCTC 2 /T /I mis12Minor allele frequency- C:0.00NA 4
    VAR_0249384
    Parkinson disease 8 (PARK8)4--see VAR_0249382 R Q mis40--------
    VAR_0406794
    An ovarian serous carcinoma sample4--see VAR_0406792 R P mis40--------
    VAR_0547454
    Parkinson disease 8 (PARK8)4--see VAR_0547452 R L mis40--------
    VAR_0547504
    Parkinson disease 8 (PARK8)4--see VAR_0547502 L H mis40--------
    VAR_0406784
    An ovarian mucinous carcinoma sample4--see VAR_0406782 R Q mis40--------
    VAR_0547474
    Parkinson disease 8 (PARK8)4--see VAR_0547472 T M mis40--------
    VAR_0547444
    Parkinson disease 8 (PARK8)4--see VAR_0547442 R H mis40--------
    VAR_0547414
    Parkinson disease 8 (PARK8)4--see VAR_0547412 M V mis40--------
    VAR_0547484
    Parkinson disease 8 (PARK8)4--see VAR_0547482 R H mis40--------
    VAR_0249634
    Parkinson disease 8 (PARK8)4--see VAR_0249632 T I mis40--------
    VAR_0249414
    Parkinson disease 8 (PARK8)4--see VAR_0249412 S T mis40--------
    VAR_0249564
    Parkinson disease 8 (PARK8)4--see VAR_0249562 R H mis40--------
    rs345944981,2,,4
    C,Fpathogenic140490883(+) ATCTGC/TGAATG 2 A V mis14Minor allele frequency- T:0.00EA NA 5242
    rs344109871,2,,4
    C,Fpathogenic140521794(+) CAGTCC/TCAAAT 2 P L mis13Minor allele frequency- T:0.01EA NA 188
    rs358083891,2
    Cpathogenic140536384(+) ATTTTA/GGAAGG 2 L syn12Minor allele frequency- G:0.00NA 4550
    rs741636861,2
    Cpathogenic140547252(+) TCTTCA/CATATA 2 N H mis10--------
    rs339493901,2,,4
    C,Fpathogenic140558070(+) TTCGCA/C/GTAGAG 2 P R mis13NA 4156
    rs347783481,2,,4
    Cpathogenic140601509(+) TCTGTG/AGACTA 2 /R /G mis13Minor allele frequency- A:0.00NA 4540
    rs22564081,2,,4
    C,F,Huntested140463307(+) CGAGCA/GCGGTA 2 H R mis126Minor allele frequency- G:0.04EA NS NA WA CSA EU 7711
    rs412864681,2
    C,Funtested140473676(+) AAATGC/TTAACA 2 L syn11Minor allele frequency- T:0.00NA 4546
    rs725463151,2
    C,Funtested140481698(+) CTCCAA/C/TAGGCT 2 H syn11NA 4548
    rs174907131,2
    C,F,Huntested140487753(+) TTAAAC/TGAAGT 2 N syn1 ese38Minor allele frequency- T:0.02NS EA WA NA 5124
    rs358474511,2
    Cuntested140495238(+) GAAAGT/CGGCTG 2 /S syn13Minor allele frequency- C:0.00NA EU 1327
    rs774246311,2
    Cuntested140512497(+) CCTGGA/GATTCA 2 G syn10--------
    rs557838281,2
    Cuntested140533465(+) ATAAGC/TGTTCA 2 S syn10--------
    rs725479811,2
    Cuntested140589701(+) ACACCA/C/GACAGA 2 H D mis12CA 520
    rs37618631,2,,4
    C,F,A,Huntested140602834(-) TTACCG/ATTACC 2 /T /M mis132Minor allele frequency- A:0.43EA NS NA WA CSA EU 9908
    rs725463351,2
    Cunknown140463585(+) AGCCTC/TCAAGT 2 S F mis10--------
    rs750541321,2
    C,Funknown140463655(+) GTCGCG/AAGTGT 2 /A syn11Minor allele frequency- A:0.00NA 4540
    rs339954631,2,,4
    C,Funknown140473668(+) GATTCT/CTAAAA 2 /P /L mis13Minor allele frequency- C:0.00NA EU 5865
    rs108782451,2
    C,F,A,Hunknown140476019(+) TGATAT/CTGGAT 2 /L syn137Minor allele frequency- C:0.50NA NS EA WA CSA EU 9115
    rs355171581,2
    Cunknown140476108(+) TGCAAA/GGCTTT 2 K syn10--------
    rs1127946161,2
    Cunknown140478573(+) AAGTGC/TGTTAA 2 A V mis11Minor allele frequency- T:0.00NA 4536
    rs561082421,2,,4
    Cunknown140478624(+) GCATTC/GTTTAC 2 S C mis10--------
    rs283652161,2
    C,Hunknown140481586(+) CAATAA/TTGTGG 2 N I mis14Minor allele frequency- T:0.00NS EA 414
    rs412864661,2
    C,Funknown140487822(+) TCAGCG/TCTCAG 2 A syn12Minor allele frequency- T:0.00NA EU 5865
    rs785012321,2
    C,Funknown140489172(+) AGAATG/AAGAAT 2 /K /E mis12Minor allele frequency- A:0.00NA EU 4961
    rs725463361,2
    Cunknown140489260(+) AAAGAA/GCAAGC 2 N S mis10--------
    rs1130650491,2
    Cunknown140489268(+) AGCACA/GTGCAG 2 M V mis10--------
    rs757113341,2
    Cunknown140497421(+) ATACTA/TACAGT 2 L syn10--------
    rs2020096391,2
    Cunknown140497474(+) GCTTCG/AAGCTA 2 /Q /R mis11Minor allele frequency- A:0.00EU 1323
    rs353289371,2
    Cunknown140501703(+) AATCCA/GGGGAG 2 R G mis11Minor allele frequency- G:0.00EU 1315
    rs799962491,2
    Cunknown140501772(+) TTCACA/GAACTG 2 K E mis10--------
    rs73087201,2,,4
    C,F,Hunknown140501795(+) TTGAAC/GAGGGT 2 N K mis130Minor allele frequency- G:0.10EA NA NS WA CSA EU 8793
    rs781543881,2
    Cunknown140515830(+) CTTTTC/TCTAAG 2 P S mis10--------
    rs725463191,2
    C,Funknown140515865(+) TTAGTA/CATATT 2 V syn12Minor allele frequency- C:0.00CSA NA 4534
    rs1995667911,2
    Cunknown140516051(+) ATGTGA/GTGCTA 2 M V mis10--------
    rs108783071,2,,4
    C,F,Hunknown140516084(+) ACAGCA/GTCATG 2 I V mis1 ese321Minor allele frequency- G:0.06EA NA NS EU 7995
    rs351735871,2,,4
    C,Funknown140521908(+) AAGGAG/TGCTGG 2 R M mis13Minor allele frequency- T:0.00NA 4554
    rs725463371,2
    Cunknown140521958(+) TTTGTA/GTAGGA 2 I V mis10--------
    rs768903021,2
    Cunknown140522011(+) ACTTCC/TAATTT 2 S syn10--------
    rs585591501,2
    Cunknown140531522(+) TTACAC/GCGTTG 2 H Q mis10--------
    rs175199161,2,,4
    C,F,Hunknown140532762(+) ATGAAG/TATTTA 2 D Y mis111Minor allele frequency- T:0.01NS EA NA 1466
    rs79665501,2
    C,F,A,Hunknown140532789(+) AAATAT/CTATCT 2 /L syn120Minor allele frequency- C:0.09NS EA NA EU 7595
    rs751483131,2
    Cunknown140533362(+) AGACAA/GCATTT 2 N S mis10--------
    rs1132170621,2
    Cunknown140533462(+) TGTATA/GAGNGT 2 I M mis10--------
    rs1113411481,2
    Cunknown140536242(+) CTCTCA/GAAATG 2 Q R mis10--------
    rs765354061,2
    Cunknown140536329(+) GCTGTC/GTTTTG 2 S C mis10--------
    rs783654311,2
    Cunknown140536375(+) GAGCAG/TCTCAT 2 Q H mis10--------
    rs749858401,2
    Cunknown140537238(+) TTGAGG/ACTTGT 2 /T /A mis11Minor allele frequency- A:0.00NA 4550
    rs725463241,2
    Cunknown140542030(+) CGCACA/GCTGGA 2 H R mis10--------
    rs601859661,2
    Cunknown140542066(+) ATTTAC/G/TCCATA 3 T S I mis11NA 4544
    rs46400001,2,,4
    C,F,Hunknown140543817(+) TTCCTC/GCTGAG 2 P A mis1 ese310Minor allele frequency- G:0.01NS EA NA 5064
    rs725463381,2
    C,Funknown140546508(+) ACAGCG/AATTAA 2 /Q /R mis11Minor allele frequency- A:0.00NA 3886
    rs174662131,2,,4
    C,F,Hunknown140546645(+) TTGGCA/GTAGAT 2 I V mis19Minor allele frequency- G:0.00NS EA NA EU 6339
    rs283652261,2,,4
    C,F,Hunknown140546659(+) AAAGAC/ATGGCC 2 /E /D mis1 ese36Minor allele frequency- A:0.00NS EA NA 420
    rs71339141,2,,4
    C,F,A,Hunknown140547136(+) AGGTCG/ATGAGG 2 /H /R mis1 ese327Minor allele frequency- A:0.10NS EA NA CSA WA EU 8749
    rs725463271,2
    C,Funknown140547172(+) TATGAC/TGCAGC 2 T M mis11Minor allele frequency- T:0.01NA 4546
    rs1135898301,2
    Cunknown140547201(+) TCTATA/GACCTC 2 N D mis10--------
    rs111759641,2
    C,F,Hunknown140547212(+) AGCAAG/AGGACA 2 /K syn122Minor allele frequency- A:0.06NA NS EA EU 8225
    rs1114354101,2
    Cunknown140547233(+) GATGCC/TATGAA 2 A syn10--------
    rs1129980351,2
    Cunknown140548465(+) GCTNNC/TGCTTC 2 R syn10--------
    rs746814921,2
    Cunknown140548479(+) TTCCCC/TTGTGA 2 P L mis10--------
    rs1115019521,2
    Cunknown140548490(+) TTCTCG/ATTGGC 2 /I /V mis11Minor allele frequency- A:0.00NA 4550
    rs1134317081,2
    Cunknown140548590(+) CATACA/GAGATT 2 Q R mis10--------
    rs174911871,2
    Cunknown140552130(+) TACAAA/CTAGTG 2 I L mis1 ese30--------
    rs14272631,2
    C,F,O,A,Hunknown140558059(-) ATAATT/GCCCTT 2 /G syn131Minor allele frequency- G:0.33NA NS EA WA CSA EU 7905
    rs111760131,2
    C,F,A,Hunknown140558098(+) TCAAAG/AAAAAG 2 /K syn1 trp326Minor allele frequency- A:0.45NS EA NA WA CSA EU 7601
    rs353037861,2,,4
    C,Funknown140558124(+) CTACAT/CGTCAC 2 /T /M mis14Minor allele frequency- C:0.01NA EU 5269
    rs115641481,2,,4
    C,F,Hunknown140558126(+) ACATGA/TCACAG 2 T S mis1 ese327Minor allele frequency- N:0.00EA NA NS WA EU 6984
    rs1115035791,2
    Cunknown140558146(+) CTCCTA/GGAAAA 2 L syn10--------
    rs799091111,2
    C,Funknown140559208(+) CTTTCA/C/GGGGAG 2 S syn11NA 4510
    rs115641761,2
    C,F,Hunknown140560065(+) TAGAAA/C/TGAGCA 2 R * stg110NS EA NA 1132
    rs725479791,2
    Cunknown140560066(+) AGAACG/AAGCAC 2 /Q /R mis12Minor allele frequency- A:0.00CA 520
    rs1453644311,2
    Cunknown140560075(+) ACTTCA/G/TCCCAA 3 H R L mis10--------
    rs1119104831,2
    Cunknown140560414(+) GGGTTA/G/TCTGGA 2 L F mis10--------
    rs108783711,2
    C,F,A,Hunknown140560486(+) GATGGC/TGAAGA 2 G syn129Minor allele frequency- T:0.44NA NS EA WA CSA EU 8365
    rs725479801,2
    C,Funknown140560496(+) AACATC/AAAAAA 2 /K /Q mis13Minor allele frequency- A:0.00CA EU 1841
    rs774288101,2
    Cunknown140573059(+) GATTCA/GTCCCC 2 H R mis10--------
    rs780296371,2
    Cunknown140578465(+) TAAAAA/TCATCA 2 T S mis10--------
    rs1117391941,2
    Cunknown140584862(+) TACTA-/CTCTA 
            
    TGACA
    2 * LY fra10--------
    rs339958831,2,,4
    C,Funknown140584916(+) TTCCAA/GATGAG 2 N D mis16Minor allele frequency- G:0.01NS NA EU 5917
    rs108784051,2
    C,F,A,Hunknown140586484(+) GTTGAG/AAAATT 2 /E syn138Minor allele frequency- A:0.26NS EA NA WA EU 9279
    rs124238621,2,,4
    C,F,Hunknown140586516(+) AAATCC/TTCAAG 2 P L mis1 ese311Minor allele frequency- T:0.01NS EA NA 1208
    rs1120489851,2
    Cunknown140589593(+) TAGTCA/TGTCTG 2 S C mis10--------
    rs1116918911,2
    Cunknown140589600(+) TCTGAC/TGAGAC 2 T M mis11Minor allele frequency- T:0.50CSA 2
    rs2012710011,2
    Cunknown140589606(+) GAGACA/GCATTT 2 H R mis10--------
    rs348696251,2
    C,Funknown140589688(+) CTGGGC/ATGTGG 2 /G syn12Minor allele frequency- A:0.00NA EU 5873
    rs356581311,2
    Cunknown140589744(+) AGGATA/GCACTT 2 Y C mis11Minor allele frequency- G:0.00NA 4540
    rs125819021,2,,4
    C,Hunknown140594112(+) AAAAAA/TTTTTC 2 N I mis15Minor allele frequency- T:0.00NS EA NA 420
    rs1135117081,2
    Cunknown140601423(+) CATAAC/TAGTGG 2 T I mis11Minor allele frequency- T:0.00NA 4530
    rs339629751,2
    C,Funknown140601511(+) TGTGGA/GCTAAT 2 G syn17Minor allele frequency- G:0.10NS NA CSA EU 6050
    rs795461901,2
    Cunknown140601524(+) ACTGCG/ATGCAC 2 /M /V mis11Minor allele frequency- A:0.00NA 4528
    rs789640141,2
    Cunknown140602827(+) CTAGGA/GAGGTA 2 K E mis10--------
    rs605453521,2
    Cunknown140602868(+) AAAATA/GTCTTA 2 I M mis10--------
    rs556335911,2
    Cunknown140605035(+) GGAAAA/GATACT 2 N D mis10--------
    rs1446372331,2
    --37669114(+) ATATAA/TATGTG 1 -- int10--------
    rs2018685091,2
    C--37669135(+) TACAC-/ATGTATATAA
    ATATACATACAA
    ATGTA
    1 -- int10--------
    rs1876663491,2
    --37669146(+) ATAAAA/TATACA 1 -- int10--------
    rs2010150621,2
    --37669150(+) TATAC-/ATATTT
            
    ATACA
    1 -- cds10--------
    rs2015958111,2
    --37669152(+) TACAT-/ATT   
       TATAC
    ACAAA
    1 -- int10--------
    rs1996313461,2
    --37669155(+) ATACA-/CAATGT 1 -- int10--------
    rs27084421,2
    C,A--37669156(+) ATACAA/GATGTA 1 -- int10--------
    rs29527131,2
    C--37669294(+) ATACAA/TATATA 1 -- int10--------
    rs2005861551,2
    C--37678529(+) ACCAT-/CTACTCTA 1 -- int10--------
    rs114306381,2
    C--37684932(+) TTCTGA/-CCTTT 1 -- int12Minor allele frequency- -:0.00CSA 6
    rs569143891,2
    C--37702044(+) TTAAA-/TAAA/TAAAATAA
    A
    /TAAAATAAAATAAA
    ATAAA
    2 -- int1 cds10--------
    rs1831552761,2
    --37712896(+) ATATAA/TAAATT 1 -- int10--------
    rs50064811,2
    C--37715343(+) GGGCAT/CATATA 1 -- int13Minor allele frequency- C:0.00WA NA CSA 5
    rs106503881,2
    C--37730720(+) TGTGT-/GT    
       
    /GTGT
    AAGTT
    1 -- int12NA CSA 36
    rs665546981,2
    C--37730721(+) GTGCG-/GTTGTGT 1 -- int10--------
    rs340735741,2
    C--37732782(+) AACAC-/T/TT  
            
    TTTTT
    1 -- int11CSA 2
    rs20692281,2
    C,F,H--37732791(+) TTTTTA/TAAATA 1 -- int1 trp36Minor allele frequency- T:0.37NS EA NA 422
    rs111760111,2
    C,A,H--37741222(+) TAACAT/ATTTTT 1 -- int11Minor allele frequency- A:0.50NA 2
    rs348671801,2
    C--37741898(+) TGTGTC/-CTTGT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs107480311,2
    C,F,H--37741900(+) GTGTCC/TGTGTT 1 -- int14Minor allele frequency- T:0.25WA NA 8
    rs107480321,2
    C,F,A,H--37741901(+) TGTCTT/GTGTTT 1 -- int17Minor allele frequency- G:0.44WA NA EA 366
    rs1995184351,2
    C--37741901(+) GTCCT-/GTGTTT 1 -- int10--------
    rs283652341,2
    H--37767085(+) AAAAGA/GAAGAA 1 -- int1 trp34Minor allele frequency- G:0.00NS EA 412
    rs1456779901,2
    C--37770948(+) TCTTT-/TTCTTATT 1 -- int10--------
    rs1135102841,2
    C--37770950(+) TTTTTA/CTTATT 1 -- int10--------
    rs765557451,2
    C--37773907(+) CAATC-/GTTTTTTTTTTT/T
    /TTTTTTTTTTTTTTT
    TTTTT
    3 -- int1 cds11CSA 2
    rs1408993491,2
    --37774053(+) CTTCCA/GTAGTG 1 -- int10--------
    rs111761551,2
    C,A,H--37774091(+) GGAGTG/AGTGAT 1 -- int15Minor allele frequency- A:0.00NS EA NA 414
    rs108784091,2
    C,A,H--37774145(+) GCACAT/GCTTGC 1 -- int15Minor allele frequency- G:0.00NS EA NA 416
    rs108784101,2
    C,A,H--37774312(+) AGACAC/TAGCAA 1 -- int12Minor allele frequency- T:0.25NA 4
    rs1383826761,2
    C--37774365(+) TACTCC/GACAAA 1 -- int10--------
    rs111761611,2
    C,F--37774518(+) GCCGGG/ACGGGG 1 -- int12Minor allele frequency- A:0.50NA 4
    rs670411511,2
    C--37776232(+) CTTTG-/AAA   
       AAAAA
    AAAAT
    1 -- int10--------
    rs1998723281,2
    C--37776235(+) TGAAA-/AAAAAA
    AAATATAT
    ATATA
    1 -- int10--------
    rs1126119681,2
    C--37776236(+) GAAAAA/TAAAAA 1 -- int10--------
    rs13657671,2
    C--37776242(+) AAAAaA/Tatata 1 -- int1 trp30--------
    rs717362761,2
    C--37776243(+) AAAAA-/AT/T  
            
    TATAT
    1 -- int10--------
    rs118354171,2
    C,H--37776244(+) AAAAAA/TATATA 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1129059101,2
    C--37776947(+) TCTTCTT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs340734511,2
    C--37777893(+) TGTGG-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs355007261,2
    C--37780134(+) TTTTT-/TCTATT 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs1455807041,2
    C--37780417(+) CTACT-/TTGTTGTT 1 -- int10--------
    rs106264581,2
    C--37784700(+) TTTTA-/CAT   
      G
    /GCAT
    CATTA
    1 -- int11NA 2
    rs2009893491,2
    --37784784(+) TTTTTC/TTCTCT 1 -- int10--------
    rs354032471,2
    C--37785907(+) TTTTTT/-CTTTA 1 -- int11Minor allele frequency- -:0.50NA 2
    rs174905991,2
    C,F,H--40461140(+) GGAGGT/AAGGTT 1 -- us2k1 tfbs35Minor allele frequency- A:0.01NS EA WA 536
    rs1842975021,2
    --40461160(+) TGCAAA/GGTTGT 1 -- us2k10--------
    rs1882032671,2
    --40461161(+) GCAAGG/TTTGTA 1 -- us2k10--------
    rs72946191,2
    C,F,A,H--40461427(+) AATTAT/CCAATT 1 -- us2k113Minor allele frequency- C:0.07NS EA NA WA 1076
    rs1383130001,2
    --40461430(+) TATCAA/GTTCAA 1 -- us2k10--------
    rs123046481,2
    C,F--40461446(+) gttatC/Tgttat 1 -- us2k11Minor allele frequency- T:0.10WA 118
    rs71365021,2
    C,F,H--40461456(+) TCTCTA/GTCTCC 1 -- us2k14Minor allele frequency- G:0.02NS NA 242
    rs1428920091,2
    --40461465(+) CCACAC/TATTTC 1 -- us2k10--------
    rs1461173621,2
    --40461571(+) AACAAC/TAAGAC 1 -- us2k10--------
    rs2014960421,2
    --40461748(+) ACTCC-/AGCAA 
            
    AGCTC
    1 -- us2k10--------
    rs1915137411,2
    --40461813(+) CATAGC/TAGTAG 1 -- us2k10--------
    rs14721151,2
    C,F,H--40461846(-) tcaatC/Actgat 1 -- us2k15Minor allele frequency- A:0.00MN NS EA 600
    rs108782261,2
    C,F,H--40461917(+) TCTTTG/CTAAGT 1 -- us2k112Minor allele frequency- C:0.07NS EA NA WA 792
    rs1415602911,2
    C--40461984(+) TACAAC/TGTTCT 1 -- us2k10--------
    rs800337781,2
    C--40461985(+) ACAATA/GTTCTT 1 -- us2k10--------
    rs1117974741,2
    F--40462013(+) AAAAAC/TACATT 1 -- us2k12Minor allele frequency- T:0.06CSA WA 120
    rs732768501,2
    C--40462081(+) TTGGGG/ATTATA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1847527991,2
    --40462091(+) AGACAC/TCCATA 1 -- us2k10--------
    rs1394413581,2
    --40462111(+) ATTTCC/TGAATA 1 -- us2k10--------
    rs1426997411,2
    --40462135(+) ATTTAA/GGTTTG 1 -- us2k10--------
    rs1894762191,2
    --40462137(+) TTAGGC/TTTGCT 1 -- us2k10--------
    rs13885971,2
    C,F,H--40462322(-) TTGTTT/CCCCTG 1 -- us2k115Minor allele frequency- C:0.04MN NS EA NA 2000
    rs14919451,2
    C,H--40462637(-) CAGTGC/TGCAGC 1 -- us2k10--------
    rs1823227691,2
    --40462881(+) TCGGCA/GGAGCC 1 -- us2k10--------
    rs1869231451,2
    --40462885(+) CGGAGC/TCTCTG 1 -- us2k10--------
    rs586212981,2
    C,F--40462911(+) CGTTTC/TTGGGG 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1811937201,2
    --40462924(+) TGAGTC/GGGGGA 1 -- us2k10--------
    rs1151501971,2
    F--40462930(+) GGGGAG/AGAGGA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1395491441,2
    C--40462939(+) GAAGCC/GGAGCA 1 -- us2k10--------
    rs1126436571,2
    C--40463035(+) CGCGGG/CGAGCG 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs412864721,2
    C--40463106(+) TTCCCA/TGAGCA 1 -- ut510--------
    rs1449900301,2
    C--40463127(+) ATGCTA/GGGAGG 1 -- ut510--------
    rs412864701,2
    C--40463138(+) GCGGCA/GGGTTG 1 -- ut510--------
    rs1423996231,2
    C--40463203(+) GAAACT/CCTGAA 2 /T syn11Minor allele frequency- C:0.00NA 4546
    rs775076621,2
    C--40463288(+) TGCTGG/TTGTTC 2 V L mis10--------
    rs802202101,2
    C,F--40463409(+) CAAACC/ACGGAC 1 -- int11Minor allele frequency- A:0.03EA 120
    rs1855469801,2
    --40463463(+) AAGCAA/GCTGAG 1 -- int10--------
    rs27232731,2
    C,F,H--40463526(-) CCCCTT/CTCCTT 1 -- int1 trp319Minor allele frequency- C:0.03NS EA NA WA CSA 1138
    rs772598731,2
    C--40463531(+) GAGGGG/TGTGCT 1 -- int10--------
    rs2021573541,2
    C--40463588(+) CTCCAA/GGTTAT 2 K R mis10--------
    rs1504220991,2
    C,F--40463607(+) AAAAAT/AATCCA 2 /K /N mis12Minor allele frequency- A:0.00NA EU 5859
    rs2008094611,2
    --40463692(+) TTCAAC/TTCATT 1 -- int10--------
    rs2000429851,2
    C--40463696(+) ACTCAC/TTCTCC 1 -- int10--------
    rs1860832701,2
    C--40463711(+) TGTTTA/GGAAGG 1 -- int10--------
    rs22562861,2
    C,F,H--40463767(+) TTCCCG/AAAATT 1 -- int121Minor allele frequency- A:0.06NS EA WA NA CSA 1559
    rs174657231,2
    F,H--40463813(+) GGAATA/GTTGTT 1 -- int14Minor allele frequency- G:0.01NS EA 416
    rs14919441,2
    C,F,H--40463906(-) ATCCAT/CACTGT 1 -- int17Minor allele frequency- C:0.01NS EA NA WA 540
    rs1922860031,2
    --40463922(+) TAGAAA/GGAGGA 1 -- int10--------
    rs174657301,2
    C,F,H--40463937(+) AATGGG/ATTCGG 1 -- int14Minor allele frequency- A:0.00NS EA 418
    rs174657371,2
    C,F,H--40463982(+) GTGTTT/CAGACT 1 -- int14Minor allele frequency- C:0.01NS EA 418
    rs283652081,2
    F,H--40464051(+) AGTTTG/TGAAAA 1 -- int1 trp34Minor allele frequency- T:0.05NS EA 416
    rs283652091,2
    H--40464167(+) CCTTGT/AAGTAT 1 -- int14Minor allele frequency- A:0.00NS EA 416
    rs1512251661,2
    --40464175(+) TATCTA/TAAGAA 1 -- int10--------
    rs174657441,2
    C,F,H--40464232(+) AAATGC/GATGTA 1 -- int14Minor allele frequency- G:0.01NS EA 414
    rs1404524611,2
    --40464431(+) TCTGCA/GTGTTA 1 -- int10--------
    rs1456317551,2
    --40464436(+) ATGTTA/GACTCA 1 -- int10--------
    rs1465572191,2
    --40464474(+) CTCCTC/TGGAGG 1 -- int10--------
    rs174906131,2
    H--40464580(+) ATGTTT/GATCTC 1 -- int14Minor allele frequency- G:0.00NS EA 410
    rs174906201,2
    C,F,H--40464622(+) ATCTAG/ACTTCT 1 -- int15Minor allele frequency- A:0.01NS EA WA 534
    rs174906271,2
    H--40464633(+) TTGATA/GTGAGG 1 -- int14Minor allele frequency- G:0.00NS EA 404
    rs283652101,2
    F,H--40464639(+) TGAGGA/GCATTT 1 -- int14Minor allele frequency- G:0.01NS EA 402
    rs283652111,2
    F,H--40464640(+) GAGGAC/AATTTA 1 -- int14Minor allele frequency- A:0.01NS EA 412
    rs14919431,2
    C,F,A,H--40464641(-) GTAAAT/AGTCCT 1 -- int123Minor allele frequency- A:0.11NS EA NA CSA WA 2765
    rs1886029691,2
    --40464666(+) TTTTAA/GTTTGT 1 -- int10--------
    rs1432027451,2
    C--40464707(+) ATTAT-/AGATTTT 1 -- int10--------
    rs174433801,2
    F,H--40464731(+) AAACCA/GAACCA 1 -- int13Minor allele frequency- G:0.01EA NS 298
    rs1929603841,2
    --40464776(+) TTTAAG/TACTCA 1 -- int10--------
    rs1412858031,2
    --40464802(+) CTGTGG/TAATAT 1 -- int10--------
    rs174433871,2
    C,F,H--40464860(+) ACGTCA/TTCCCT 1 -- int14Minor allele frequency- T:0.01NS EA 416
    rs1872044021,2
    --40464928(+) CTAGAC/TTCTGT 1 -- int10--------
    rs1446352851,2
    C--40464980(+) CAGAT-/CCTGGG 1 -- int10--------
    rs1912381801,2
    --40464980(+) CAGATC/TCTGGG 1 -- int10--------
    rs14919421,2
    C,F,A,H--40465033(-) GGGTTG/CTCAAG 1 -- int114Minor allele frequency- C:0.27NS EA NA WA CSA 792
    rs14919411,2
    C,F,A,H--40465040(-) CTCCCT/CTGGGT 1 -- int113Minor allele frequency- C:0.37NS NA WA CSA EA 482
    rs174657511,2
    C,F,H--40465106(+) TTGTCC/TGGAGT 1 -- int14Minor allele frequency- T:0.02NS EA NA 406
    rs1502246761,2
    --40465111(+) CGGAGC/TAGTTA 1 -- int10--------
    rs1837667411,2
    --40465142(+) TGCCTA/CGAGAG 1 -- int10--------
    rs1388731401,2
    --40465203(+) ATTAAG/TTACTT 1 -- int10--------
    rs798577531,2
    C--40465220(+) ATATAC/TCATAG 1 -- int10--------
    rs1494063661,2
    C--40465381(+) GCAATA/GAATTA 1 -- int10--------
    rs1877323241,2
    --40465554(+) TTTCCA/GCTCCT 1 -- int10--------
    rs1437926051,2
    --40465653(+) CAAATG/TACAGG 1 -- int10--------
    rs1932361931,2
    --40465698(+) TGTATA/GTATAC 1 -- int10--------
    rs1453342351,2
    C--40465712(+) ATTTT-/CTTTTA 1 -- int10--------
    rs1385384991,2
    --40465814(+) CAATCC/GTGGGC 1 -- int10--------
    rs1856558141,2
    --40465877(+) GCCACA/CATGCT 1 -- int10--------
    rs1441394561,2
    C--40465878(+) CCACCA/GTGCTC 1 -- int10--------
    rs1473486431,2
    --40465933(+) TTGCTA/GTGTTG 1 -- int10--------
    rs1901194681,2
    --40465978(+) TCCTCC/TTGCCT 1 -- int10--------
    rs1145858501,2
    C,F--40466059(+) ACAGGG/ACTGCA 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1817658421,2
    --40466074(+) ACATGC/GGAGTT 1 -- int10--------
    rs111756451,2
    C,F,H--40466117(+) TTTGGA/GTATAT 1 -- int16Minor allele frequency- G:0.07NS EA WA NA 656
    rs45675381,2
    C,F,H--40466129(+) cccagC/Tgatga 1 -- int112Minor allele frequency- T:0.29NS EA NA CSA WA 785
    rs1838461621,2
    C--40466130(+) CCAGCA/GATGAG 1 -- int10--------
    rs1394859221,2
    --40466183(+) TACCTC/TCATAC 1 -- int10--------
    rs1434951471,2
    --40466391(+) TGTACC/TTGTTA 1 -- int10--------
    rs1885674311,2
    --40466399(+) TTAGCC/TATTTG 1 -- int10--------
    rs1813593511,2
    --40466619(+) AGAAGC/TTTTTT 1 -- int10--------
    rs1505406431,2
    C--40466695(+) AAAATA/CATTGC 1 -- int10--------
    rs1143924451,2
    C,F--40466728(+) TTCCCC/TAGTGT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1395496061,2
    --40466745(+) CTAGTA/GGTTGC 1 -- int10--------
    rs603512531,2
    C--40466767(+) TCTGAG/AATGTA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1497207431,2
    --40466792(+) TTTGAA/CATGAT 1 -- int10--------
    rs779246791,2
    C,F--40466824(+) TGGATC/TTAGTT 1 -- int11Minor allele frequency- T:0.02EA 120
    rs1133960011,2
    F--40466896(+) TTACCG/AGATGT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs759311411,2
    C--40466908(+) TTACTG/TTCATA 1 -- int10--------
    rs122306851,2
    C,F,H--40467017(+) ATCTAC/TTAGCT 1 -- int117Minor allele frequency- T:0.12NS EA NA WA 2332
    rs785832451,2
    C,F--40467031(+) GAATTC/TGCAAG 1 -- int11Minor allele frequency- T:0.02NA 120
    rs1850510951,2
    --40467048(+) GTGCAA/CGCTAG 1 -- int10--------
    rs1393920771,2
    C--40467099(+) TAGGTA/CCAATG 1 -- int10--------
    rs1441640361,2
    --40467185(+) TTAAAA/CGTAGT 1 -- int10--------
    rs27084391,2
    C,F,H--40467534(+) CTATCA/TTTTCA 1 -- int114Minor allele frequency- T:0.05NS EA NA WA CSA 550
    rs751430741,2
    C,F--40467551(+) TCCTAA/CATTTT 1 -- int11Minor allele frequency- C:0.02NA 120
    rs1909219101,2
    C--40467639(+) AACCCC/TTAGAC 1 -- int10--------
    rs1412325031,2
    --40467899(+) CTGATA/TCTGTT 1 -- int10--------
    rs111756551,2
    C,F,H--40467954(+) TGTAGG/ATACAG 1 -- int115Minor allele frequency- A:0.09NS EA NA WA 1890
    rs27084401,2
    C,F,A,H--40467957(+) AGGTAT/CAGAGA 1 -- int116Minor allele frequency- C:0.04EA NS NA WA CSA 672
    rs111756561,2
    C,F,A,H--40467982(+) TATGTA/G/TACTTT 1 -- int19EA NS NA WA 310
    rs111756571,2
    H--40468021(+) CACCAG/AAAGCT 1 -- int14Minor allele frequency- A:0.00NS EA 418
    rs13528751,2
    A--40468032(-) ACCTTC/TTGAAC 1 -- int12Minor allele frequency- T:0.00NA 4
    rs602435151,2
    C,F--40468066(+) AAAGTC/TTTGAT 1 -- int12Minor allele frequency- T:0.08WA 120
    rs1822996551,2
    --40468067(+) AAGTCC/TTGATG 1 -- int10--------
    rs1389820341,2
    C--40468095(+) AAAAT-/AGTC  
            
    AGTTT
    1 -- int10--------
    rs1873059791,2
    --40468099(+) TAGTCA/TGTTTC 1 -- int10--------
    rs1916958471,2
    --40468102(+) TCAGTC/TTCTAT 1 -- int10--------
    rs748833591,2
    C,F--40468126(+) TCAACG/ATCTGT 1 -- int11Minor allele frequency- A:0.02NA 120
    rs13528741,2
    F,H--40468190(-) AATTTC/TTGATA 1 -- int11Minor allele frequency- T:0.02NS 112
    rs1480851131,2
    C--40468235(+) GGAAG-/TAATGACAAAATAAA
    GCAATTTATGTTTAATC
    TGGAA
    1 -- int10--------
    rs731063321,2
    C--40468312(+) TAATCA/TTTTTT 1 -- int10--------
    rs1830477341,2
    --40468434(+) ATTCAA/GCTTTA 1 -- int10--------
    rs1512751571,2
    --40468438(+) AACTTA/TACTTA 1 -- int10--------
    rs797517241,2
    C--40468461(+) TATCCA/CAAAAT 1 -- int10--------
    rs111756581,2
    C,F,H--40468539(+) ATACAA/GTCTGG 1 -- int17Minor allele frequency- G:0.07NS EA NA WA 658
    rs1876710551,2
    --40468638(+) ATTTAG/TTACAC 1 -- int10--------
    rs1902030461,2
    --40468687(+) ACATAC/TATGCA 1 -- int10--------
    rs356426581,2
    C--40468699(+) TTCTC-/C/TTTTTT 1 -- int10--------
    rs2018672511,2
    --40468700(+) TCTCT-/CTTTTT 1 -- int10--------
    rs791237811,2
    C--40468717(+) TTTTTG/TACCAT 1 -- int10--------
    rs1405230841,2
    --40468800(+) TAGGAA/GGAATA 1 -- int10--------
    rs1504537191,2
    --40468821(+) CATCTC/GCGGTT 1 -- int10--------
    rs2000796581,2
    --40468844(+) TTCAA-/TTTTTT 1 -- int10--------
    rs1827943831,2
    --40468972(+) TAGGGA/GTGTCT 1 -- int10--------
    rs79743201,2