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Reference SNP (refSNP) Cluster Report: rs2476601                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:A=0.0668/8115 (ExAC)
A=0.0274/137 (1000 Genomes)
A=0.0684/889 (GO-ESP)
A=0.0589/7397 (TOPMED)
HGVS Names
  • CM000663.2:g.113834946A>G
  • NC_000001.10:g.114377568A=
  • NC_000001.10:g.114377568A>G
  • NC_000001.11:g.113834946A=
  • NC_000001.11:g.113834946A>G
  • NG_011432.1:g.41808C=
  • NG_011432.1:g.41808C>T
  • NM_001193431.2:c.1858C=
  • NM_001193431.2:c.1858C>T
  • NM_001308297.1:c.1786C=
  • NM_001308297.1:c.1786C>T
  • NM_012411.5:c.1693C=
  • NM_012411.5:c.1693C>T
  • NM_015967.6:c.1858C=
  • NM_015967.6:c.1858C>T
  • NP_001180360.1:p.Arg620=
  • NP_001180360.1:p.Arg620Trp
  • NP_001295226.1:p.Arg596=
  • NP_001295226.1:p.Arg596Trp
  • NP_036543.4:p.Arg565=
  • NP_036543.4:p.Arg565Trp
  • NP_057051.3:p.Arg620=
  • NP_057051.3:p.Arg620Trp
  • NR_125965.1:n.414+19474A>G
  • NR_125965.1:n.414+19474G>A
  • XP_005270795.1:p.Trp596=
  • XP_005270795.1:p.Trp596Arg
  • XP_011539523.1:p.Trp594=
  • XP_011539523.1:p.Trp594Arg
  • XP_011539524.1:p.Trp620=
  • XP_011539524.1:p.Trp620Arg
  • XP_011539525.1:p.Trp620=
  • XP_011539525.1:p.Trp620Arg
  • XP_011539527.1:p.Trp596=
  • XP_011539527.1:p.Trp596Arg
  • XP_016856493.1:p.Trp620=
  • XP_016856493.1:p.Trp620Arg
  • XP_016856494.1:p.Trp505=
  • XP_016856494.1:p.Trp505Arg
Links , Linkout
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss275984809 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2476601 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss3470759SC_JCM|AL137856.16_52983fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc09/24/0110/10/03100Genomicunknown
ss13021020SC_SNP|NT_019273.15_4813372fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc10/22/0310/31/03119Genomicunknown
ss20529804SSAHASNP|WGSA-200403-chr1.chr1.NT_019273.16_5373516byFreqfwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc03/18/0410/26/06121Genomicunknown
ss41341700ABI|hCV16021387fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc07/16/0507/17/05126Genomicunknown
ss66543252ILLUMINA|HumanHap300v1.1_rs2476601fwd/BA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc11/09/0611/09/06127Genomicunknown
ss67256665ILLUMINA|HumanHap550v1.1_rs2476601fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc11/14/0611/14/06127Genomicunknown
ss67655125ILLUMINA|HumanHap650Yv1.0_rs2476601fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc11/14/0611/14/06127Genomicunknown
ss68778408PERLEGEN|PGP04769033byFreqfwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc01/30/0708/14/07127Genomicunknown
ss70735016ILLUMINA|HumanHap550v3.0__rs2476601fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc04/20/0703/30/08130Genomicunknown
ss71305045ILLUMINA|HumanHap650Yv3.0_rs2476601fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc04/23/0704/23/07127Genomicunknown
ss71646440SI_EXO|NT_019273.18_10285253byFreqfwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc05/07/0703/31/08127Genomicunknown
ss73688586JDRF_WT_DIL|DIL8083rev/BC/Tgatgatgaaatcccccctccacttcctgtaggacacctgaatcatttattgtggttgagg06/20/0706/20/07129Genomicunknown
ss74810261AFFY|SNP_M-183605fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc08/09/0708/09/07128Genomicunknown
ss75562449ILLUMINA|ILMN_Human_1M_rs2476601fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc08/28/0708/29/07129Genomicunknown
ss79136556ILLUMINA|HumanHap300v2.0_rs2476601fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc04/18/0711/18/07130Genomicunknown
ss84052579KRIBB_YJKIM|KHS617230fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc12/04/0712/06/07130Genomicunknown
ss84700511HGSV|Cor19129_SNV_20070510.chr1_114089610fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc12/06/0712/07/07130Genomicunknown
ss87727463BCMHGSC_JDW|JWB-0108091fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc02/26/0802/26/08129Genomicunknown
ss97968763HUMANGENOME_JCVI|1103675201039fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc03/30/0803/30/08130Genomicunknown
ss106596199BGI|BGI_rs2476601fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc09/16/0806/16/09130Genomicunknown
ss1085376941000GENOMES|CEU.trio.12.15.2008_147321_chr1_114179091fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc12/16/0812/16/08130Genomicunknown
ss1110378171000GENOMES|NA19240_2008_12_16_134483_chr1_114179091fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc12/17/0812/17/08130Genomicunknown
ss118981983ILLUMINA-UK|NA18507_000133335_NCBI36.1_chr1_114179091fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc01/21/0901/21/09130Genomic99 %
ss120035988ILLUMINA|GS0007123-OPA_Ober-rs2476601rev/BC/Tgatgatgaaatcccccctccacttcctgtaggacacctgaatcatttattgtggttgagg02/24/0902/24/09131Genomicunknown
ss122044213ILLUMINA|HumanCNV370v1_C_rs2476601fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc04/14/0904/15/09131Genomicunknown
ss138063505ENSEMBL|ENSSNP6762723fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc05/15/0905/16/09131Genomicunknown
ss139271941ENSEMBL|ENSSNP19339fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc12/08/0810/16/09131Genomicunknown
ss153914932ILLUMINA|Human610_Quadv1_B_rs2476601-128_T_F_1501730990fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc06/18/0906/20/09131Genomicunknown
ss155552955GMI|GMI_SNP_72342169fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc06/24/0906/24/09131Genomicunknown
ss159392726ILLUMINA|Human660W-Quad_v1_A_rs2476601-128_T_F_1501730990fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc07/06/0907/07/09131Genomicunknown
ss159698368SEATTLESEQ|PTPN22-114179091fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc07/10/0907/10/09131Genomicunknown
ss160551256ILLUMINA|HumanOmni1-Quad_v1-0_B_rs2476601-128_T_F_1501730990fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc08/04/0910/03/09131Genomicunknown
ss163932627COMPLETE_GENOMICS|NA19240_36_chr1_114179091fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc09/29/0909/29/09132Genomicunknown
ss165060263COMPLETE_GENOMICS|NA07022_36_chr1_114179091fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc09/28/0909/30/09132Genomicunknown
ss169667113OMICIA|2009_August_001_234_PTPN22_600716_0001fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc10/01/0902/08/13137Genomicunknown
ss171272914ILLUMINA|HumanCNV370-Quadv3_C_rs2476601-128_T_F_1501730990fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc10/01/0910/03/09132Genomicunknown
ss173363382ILLUMINA|Human1M-Duov3_B_rs2476601-128_T_F_1501730990fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc10/01/0910/03/09132Genomicunknown
ss198955217BUSHMAN|BUSHMAN-chr1-114179090fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc02/16/1003/06/10132Genomicunknown
ss205139875BCM-HGSC-SUB|BCM_CMT_1011-49806fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc03/15/1003/15/10132Genomicunknown
ss2186064251000GENOMES|pilot_1_YRI_416108_chr1_114179091fwd/A/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc04/22/1004/22/10132Genomicunknown
ss2306987871000GENOMES|pilot_1_CEU_303416_chr1_114179091fwd/A/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc05/01/1005/01/10132Genomicunknown
ss2383550251000GENOMES|pilot_1_CHB+JPT_240102_chr1_114179091fwd/A/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc05/01/1005/01/10132Genomicunknown
ss244290722ILLUMINA|CVDSNP55v1_A_rs2476601fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc06/10/1006/10/10132Genomicunknown
ss253397350BL|SNP119281_1_114179091fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc08/18/1008/18/10134Genomicunknown
ss256302448OMIM-CURATED-RECORDS|9440rev/BC/Tgatgatgaaatcccccctccacttcctgtaggacacctgaatcatttattgtggttgagg08/26/1008/26/10132Genomicunknown
ss275984809GMI|GMI_AK_SNP_304972fwd/A/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc12/16/1012/16/10137Genomicunknown
ss284124208GMI|GMI_NA10851_SNP_136974fwd/A/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc12/17/1012/17/10138Genomicunknown
ss290602352PJP|SNP_108710_chr1_114179091fwd/A/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc01/21/1101/21/11134Genomicunknown
ss341982908NHLBI-ESP|ESP2500-chr1-114377568byFreqfwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc03/25/1109/05/14134Genomicunknown
ss410923484ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs2476601fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc06/07/1106/07/11135Genomicunknown
ss479660581ILLUMINA|HumanOmni2.5-4v1_D_kgp11363982-0_T_F_1821455490fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca01/30/1210/27/16137Genomicunknown
ss481419265ILLUMINA|HumanOmni1-Quad_v1-0_C_rs2476601-131_T_F_1858937315fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca01/30/1208/28/15146Genomicunknown
ss482077501ILLUMINA|HumanOmni2.5-4v1_B_SNP1-114179091-0_T_F_1617883055fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca01/30/1210/28/16137Genomicunknown
ss4897584281000GENOMES|20110521_exome_313125_chr1_114377568fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc02/10/1202/21/12137Genomicunknown
ss491298583EXOME_CHIP|nonsyn_14810_chr_1_114377568fwd/TA/Gcctcaaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttcatcatc03/05/1203/05/12137Genomicunknown
ss491600613CLINSEQ_SNP|SNV-chr1-114179091byFreqfwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca03/06/1209/05/14137Genomicunknown
ss537095339ILLUMINA|HumanOmni5-4v1_B_rs2476601-131_T_F_1908354905fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca06/22/1208/28/15146Genomicunknown
ss648324271SSMP|1_114377568fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca12/14/1202/09/15138Genomicunknown
ss778700582ILLUMINA|HumanOmni25Exome-8v1_A_rs2476601-131_T_F_1858937315fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/30/1307/09/15142Genomicunknown
ss779628102ILLUMINA|HumanOmni25Exome-8v1_A_kgp11363982-0_T_F_1821455490fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/30/1307/09/15142Genomicunknown
ss780890437ILLUMINA|HumanOmni25Exome-8v1_A_exm85427-0_B_R_1921543576fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/30/1307/09/15146Genomicunknown
ss781036782ILLUMINA|HumanOmni2.5-4v1_H_kgp11363982-0_T_F_1821455490fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/30/1307/28/15142Genomicunknown
ss783576765ILLUMINA|HumanOmniExpressExome-8v1_A_exm85427-0_B_R_1921543576fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/31/1306/18/15146Genomicunknown
ss825467074ILLUMINA|HumanCNV370v1_C_rs2476601-126_T_F_IFB1136436088:0fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca06/24/1311/21/14144Genomicunknown
ss832904467ILLUMINA|Human660W-Quad_v1_C_rs2476601-131_T_F_1858937315fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca09/18/1307/02/15142Genomicunknown
ss833495297ILLUMINA|Human660W-Quad_v1_H_rs2476601-131_T_F_1858937315fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca09/18/1307/02/15142Genomicunknown
ss834159514ILLUMINA|HumanOmni2.5-8v1_A_rs2476601-131_T_F_1858937315fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca09/18/1307/28/15142Genomicunknown
ss835100677ILLUMINA|HumanOmni2.5-8v1_A_kgp11363982-0_T_F_1821455490fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca09/18/1307/28/15142Genomicunknown
ss975588464EVA-GONL|EVA-GONL_rs2476601fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca04/23/1404/23/14142Genomicunknown
ss1067424555JMKIDD_LAB|HGDP_exomes_chr1_114377568fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca07/09/1407/09/14142Genomicunknown
ss1068206237JMKIDD_LAB|HGDP_WGS_chr1_114377568fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca07/10/1407/10/14142Genomicunknown
ss12925021551000GENOMES|PHASE3_V1_3297007fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca08/16/1408/16/14142Genomicunknown
ss1397257923HAMMER_LAB|HAMMER_LAB_rs2476601fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca09/30/1407/15/15146Genomicunknown
ss1425942603DDI|DDI_rs2476601fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca11/04/1411/04/14144Genomicunknown
ss1574334443EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2476601fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca02/19/1502/19/15144Genomicunknown
ss1584010204EVA_FINRISK|EVA_FINRISK_rs2476601fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca02/27/1502/27/15144Genomicunknown
ss1584969342EVA_DECODE|EVA_DECODE_1_114179091_840094_rs2476601fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca03/02/1503/02/15144Genomicunknown
ss1601027312EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_114377568_1814968fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca03/04/1503/04/15144Genomicunknown
ss1644021345EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_114377568_1814968fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca03/04/1503/04/15144Genomicunknown
ss1685697799EVA_EXAC|EVA_EXAC_517812fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca03/04/1503/04/15144Genomicunknown
ss1710916760EVA_MGP|EVA_XIMO_33512fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca03/09/1503/09/15144Genomicunknown
ss1712364481EVA_SVP|EVA_SVP_59033fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca03/12/1503/12/15144Genomicunknown
ss1751864586ILLUMINA|OmniExpressExome-8v1-1_B_exm85427-0_B_R_1921543576fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/27/1506/09/15146Genomicunknown
ss1794958660HAMMER_LAB|Hsieh_350879fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca07/15/1507/15/15146Genomicunknown
ss1917732863ILLUMINA|HumanExome-12v1-1_B_exm85427-0_B_R_1921543576fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca10/16/1510/16/15147Genomicunknown
ss1918788624WEILL_CORNELL_DGM|SNV:chr1:114377568fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca10/16/1510/16/15147Genomicunknown
ss1946005574ILLUMINA|HumanCoreExome-12v1-0_C_exm85427-0_B_R_1921543576fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca10/29/1510/29/15147Genomicunknown
ss1946005575ILLUMINA|HumanCoreExome-12v1-0_C_rs2476601-131_T_F_1908354905fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca10/29/1510/29/15147Genomicunknown
ss1958304698ILLUMINA|exm85427-0_B_R_1921543576fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca11/13/1511/13/15147Genomicunknown
ss1958304700ILLUMINA|rs2476601-131_T_F_1885469976fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca11/13/1511/13/15147Genomicunknown
ss1966845502GENOMED|rs2476601fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca02/16/1602/16/16147Genomicunknown
ss2019918723JJLAB|SNP421278fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca08/29/1608/30/16149Genomicunknown
ss2094847342ILLUMINA|Immuno_BeadChip_11419691_B_imm_1_114179091-1_T_F_1670121279fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca09/27/1609/27/16150Genomicunknown
ss2094972794ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_1_114179091-1_T_F_2310582045fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca09/27/1609/27/16150Genomicunknown
ss2094972797ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs2476601-138_T_F_2264330490fwd/TA/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca09/27/1609/27/16150Genomicunknown
ss2147937550USC_VALOUEV|NC_000001.10:g.114377568A>Gfwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca11/17/1611/17/16150Genomicunknown
ss2165857848HUMAN_LONGEVITY|HLI-1-113834946-A-Gfwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca11/18/1611/18/16150Genomicunknown
ss2328222824TOPMED|1_114377568_A/Gfwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca11/19/1611/19/16150Genomicunknown
ss2624469023SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV266091fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca01/06/1701/06/17151Genomicunknown
ss2632565463ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs2476601-131_T_F_2131fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca02/02/1702/02/17151Genomicunknown
ss2632565464ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp11363982-0_T_F_18214554fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca02/02/1702/02/17151Genomicunknown
ss2632565465ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2476601-131_T_F_19083549fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca02/02/1702/02/17151Genomicunknown
ss2632565466ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs2476601-131_T_F_2130fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca02/02/1702/02/17151Genomicunknown
ss2697867872GRF|rs2476601fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca02/13/1702/13/17151Genomicunknown
ss2710680369ILLUMINA|Consortium-OncoArray_15047405_A_rs2476601-131_T_F_1908354905fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca03/22/1703/22/17151Genomicunknown
ss2731729647GNOMAD|exomes_rs2476601fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/17/1705/17/17151Genomicunknown
ss2746399340GNOMAD|coding_rs2476601fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/17/1705/17/17151Genomicunknown
ss2759760592GNOMAD|rs2476601fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/17/1705/17/17151Genomicunknown
ss2984871544AFFY|Axiom_PsorMich_Affx-4562521fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/24/1705/24/17151Genomicunknown
ss2985522543AFFY|Axiom_Smokesc1_Affx-4562521fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/24/1705/24/17151Genomicunknown
ss2987467326SWEGEN|NC_000001.10:g.114377568A>Gfwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca05/30/1705/30/17151Genomicunknown
ss3021122751ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm85427-0_B_R_1921543576fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca06/28/1706/28/17151Genomicunknown
ss3021122752ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs2476601-138_T_F_2277619950fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca06/28/1706/28/17151Genomicunknown
ss3023723910BIOINF_KMB_FNS_UNIBA|1.113834946A>Gfwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca07/05/1707/05/17151Genomicunknown
ss3087267825TOPMED|TOPMed_freeze_5?chr1:113,834,946fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca09/28/1709/28/17151Genomicunknown
ss3343643175CSHL|rs2476601fwd/A/Gaccacaataaatgattcaggtgtcctacaggaagtggaggggggatttca10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2476601|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GAAAGTGAAT ATAGTTCGGT TCTTAAGAAT AGTATTCTTT TAGACATCAA ATGTTGCTCA
 GCAAATAATA CATAAAACAT TGAAAGGACC TGAGAAGTAA TCTAGTTAAT TCACACTTCA
 TTTTATTTTT TGAGACAGGG TCTTGCTCTG TCACCCAGAC TGGAGTGCAG TGGCACAATC
 ATGGCTTACT GCAGCCCCCA ACTCCTGGGC TCAAGTGATC CTCTCACCTC CACCATCCAA
 ATAGTTGGGA CTACACATGC ATGCTGCTAT TGCTCTGCTA AATTAAAAAA AAAAAATTAG
 AGATGAGGTC TCACTATGTT GCGCAGGCTA GTCTTGAACT CCTGGCCTCA ATGAACTCCT
 CAAACTCAAG GCTCACACAT CAGCTTCCCA AAGTGCTGGA ATTAAAGGCA TGAGCCACCA
 TGCCCATCCC ACACTTTATT TTATACTTAC TGAACTGTAC TCACCAGCTT CCTCAACCAC
 AATAAATGAT TCAGGTGTCC
 R
 TACAGGAAGT GGAGGGGGGA TTTCATCATC TATCCTTGGA GCAGTTGCTA TCCAAAATGT
 CAAAAATATT GTAACAATTG TTAATTAGAA CAATCCAAAG GAAATTCTTA TATTCTAATA
 TTAAATATAA ATTTACCATA ATTTATATTT AAATTCCGTT GAAGCAACAT TATCAGTAAA
 GTTGACACTT GTTCATTCAA GGAAAAAGCA AAATAAATTC TCTTAAGGTA CAAACCCAGG
 AGGTTTTTGC TTATTCTTTA ACATTTATTG TTTTAAAAGC TCAAAAGTAG GGCTGGGCGC
 GGTGGCTCAC GCCTGTAATC CCAGCACTTT CGGAGGCCGA GGCGGGCAGA TCACAAGGTC
 AGGAGATCGA AACCATCCTG GCTAACGTGG TGAAACCGTG TCTCTACTAA AAACACAAAA
 CATTAGCCGG GCGTGGTGGC GGGCCCCTGT AGTCCCAGCT ACTCGGGAGG CTGAGGTGGG
 AGAATGGCGT GAACCCGGAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_019273.18 ABBA01068458 AL365321
dbSNP Blast Analysis
UniGene Cluster ID
97745
OMIM
600716.0001

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss118981983YRI 2IG 1.00000000 1.00000000
ss1292502155EAS 1008AF 1.00000000
EUR 1006AF 0.094400000.90560001
AFR 1322AF 0.003000000.99700004
AMR 694AF 0.036000000.96399999
SAS 978AF 0.013300000.98670000
ss138063505ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss139271941ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss163932627YRISub-Saharan African 2IG 1.00000000 1.00000000
ss165060263CEUEuropean 2IG 1.00000000 1.00000000
ss1685697799ExAc_Aggregated_Populations121412AF 0.066863240.93313676
ss218606425pilot_1_YRI_low_coverage_panel 118AF 1.00000000
ss230698787pilot_1_CEU_low_coverage_panel 120AF 0.116666670.88333333
ss238355025pilot_1_CHB+JPT_low_coverage_panel 120AF 1.00000000
ss341982908ESP_Cohort_Populations 4548GF0.004397540.109058920.886543510.438578000.058927000.94107300
ss491600613CSAgilent 1313GF0.009000000.161000000.829999981.000000000.089500000.91049999
ss71646440HapMap-CEUEuropean 222IG0.009009010.216216220.774774790.654721000.117117110.88288289
HapMap-HCBAsian 84IG 0.047619050.952380961.000000000.023809520.97619045
HapMap-JPTAsian 168IG 0.035714290.964285731.000000000.017857140.98214287
HapMap-YRISub-Saharan African 216IG 0.009259260.990740721.000000000.004629630.99537039
HAPMAP-ASW 96IG 0.041666670.958333311.000000000.020833330.97916669
HAPMAP-CHBAsian 82IG 0.024390240.975609781.000000000.012195120.98780489
HAPMAP-CHD 166IG 0.024096380.975903631.000000000.012048190.98795182
HAPMAP-GIH 176IG 0.022727270.977272751.000000000.011363640.98863637
HAPMAP-LWK 180IG 0.011111110.988888861.000000000.005555560.99444443
HAPMAP-MEX 96IG0.020833330.062500000.916666690.020022000.052083330.94791669
HAPMAP-MKK 286IG 0.006993010.993007001.000000000.003496500.99650347
HAPMAP-TSI 172IG 0.139534890.860465111.000000000.069767450.93023258
ss97968763J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.125+/-0.2160000ALFRED: The Allele Frequency Database

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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