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Reference SNP (refSNP) Cluster Report: rs4680                 ** With drug-response allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:52/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
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 drug-response allele [ClinVar]
MAF/MinorAlleleCount:A=0.4727/55317 (ExAC)
A=0.3692/1849 (1000 Genomes)
A=0.4515/5872 (GO-ESP)
A=0.4243/53274 (TOPMED)
HGVS Names
  • CM000684.2:g.19963748G>A
  • NC_000022.10:g.19951271G>A
  • NC_000022.11:g.19963748G>A
  • NG_011526.1:g.27009G>A
  • NM_000754.3:c.472G>A
  • NM_001135161.1:c.472G>A
  • NM_001135162.1:c.472G>A
  • NM_007310.2:c.322G>A
  • NP_000745.1:p.Val158Met
  • NP_001128633.1:p.Val158Met
  • NP_001128634.1:p.Val158Met
  • NP_009294.1:p.Val108Met
  • NR_039918.1:n.-5G>A
  • XP_005261286.1:p.Val158Met
  • XP_011528188.1:p.Val196Met
  • XP_016884083.1:p.Val158Met
  • XP_016884084.1:p.Val158Met
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 ss283587220 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4680 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
ss5363DEBNICK|cSNP-87fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtcacccttgtggttggag06/04/9910/10/0352cDNAunknown
ss10902CGAP-GAI|52727fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtcacccttgtggttggag08/23/9910/10/0352cDNA99 %
ss232568KWOK|OVLP-000621-100573fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt06/30/0010/10/03109Genomic94 %
ss458935SC|Em:AC005663_85555rev/BC/Tacgggtcaggcatgcacaccttgtccttcagccagcgaaatccaccatccgctgggtgat07/05/0010/10/03109Genomicunknown
ss593353SC_JCM|AC005663.2_17567fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt07/12/0010/10/03109Genomicunknown
ss869771UWGC|comt-e2+t12byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt08/18/0004/07/04109Genomicunknown
ss1058120KWOK|OVLP-000804-580049fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt09/02/0010/10/03109Genomic94 %
ss1525135LEE|404752fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtcacccttgtggttggag09/13/0010/10/03102cDNAunknown
ss1750406KWOK|OVLP-000925-448899fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt10/05/0010/10/03109Genomic94 %
ss2419858HGBASE|SNP000000140fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga11/07/0010/10/03109Genomicunknown
ss2982266AFFX|AFFX_SNP-266fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtcacccttgtggt05/21/0110/10/03102Genomicunknown
ss4394550LEE|ge404746fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt04/25/0210/10/03109cDNAunknown
ss4415842LEE|e404746fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtcacccttgtggttggag04/26/0210/10/03108cDNAunknown
ss4933092YUSUKE|IMS-JST098680byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt08/01/0210/10/03109Genomicunknown
ss5586357SNP500CANCER|COMT-01byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt09/26/0204/07/04113Genomicunknown
ss6311517RIKENSNPRC|ssj0007832fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt01/15/0310/10/03111Genomicunknown
ss6312623KIDDLAB|SI000155LbyFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt01/17/0310/10/03111GenomicGunknown
ss12586777HG_BONN_CNS_SNPS|comt_x3:362fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt08/05/0303/27/06117Genomicunknown
ss12673767EGP_SNPS|COMT-023753byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt08/22/0304/07/04119Genomicunknown
ss16240705CGAP-GAI|1478568fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtcacccttgtggttggag11/18/0311/22/03126cDNAunknown
ss21854500SSAHASNP|WGSA-200403-chr22.chr22.NT_011519.10_3103421fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt03/20/0403/20/04121Genomicunknown
ss22886949IMCJ-GDT|IMCJ-COMT_9-AGfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt03/22/0403/22/04121Genomicunknown
ss24702135PERLEGEN|afd0106026byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt08/10/0409/13/04123Genomicunknown
ss24780327SEQUENOM|sqnm6022byFreqrev/BC/Tctccaaccacaagggtgaccttgtccttcagccagcgaaatccaccatccgctgggtgat06/18/0411/02/06126cDNAunknown
ss24790234SEQUENOM|sqnm95100rev/BC/Tctccaaccacaagggtgaccttgtccttcagccagcgaaatccaccatccgctgggtgat06/18/0406/18/04126cDNAunknown
ss28503610MGC_GENOME_DIFF|BC000419x29806588-G3103421Afwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt08/25/0408/25/04126cDNAunknown
ss28504308MGC_GENOME_DIFF|BC005867x29806588-G3103421Afwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt08/25/0408/25/04126cDNAunknown
ss35031502ABI|hCV2538751byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt01/13/0511/02/06125Genomicunknown
ss41527572ABI|hCV25746809byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt07/17/0511/03/06126Genomicunknown
ss48429990APPLERA_GI|hCV25746809byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt10/02/0511/03/06126Genomicunknown
ss65728351ILLUMINA|Human1-rs4680fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt10/10/0610/10/06127Genomicunknown
ss65824277KRIBB_YJKIM|KHS60byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt10/17/0612/16/06127Genomicunknown
ss66561034ILLUMINA|HumanHap300v1.1_rs4680fwd/BA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt11/09/0611/09/06127Genomicunknown
ss66862091EGP_SNPS|COMT_023753byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt11/09/0612/16/06127Genomicunknown
ss67358029ILLUMINA|HumanHap550v1.1_rs4680fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt11/14/0611/14/06127Genomicunknown
ss67746210ILLUMINA|HumanHap650Yv1.0_rs4680fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt11/14/0611/14/06127Genomicunknown
ss69277073PERLEGEN|PGP00106026byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt01/30/0708/14/07127Genomicunknown
ss69367705PHARMGKB_PPII|PS205182_PA137869185_236byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt03/22/0708/14/07127Genomicunknown
ss70815561ILLUMINA|HumanHap550v3.0__rs4680rev/BC/Tacgggtcaggcatgcacaccttgtccttcagccagcgaaatccaccatccgctgggtgat04/20/0703/30/08130Genomicunknown
ss71396394ILLUMINA|HumanHap650Yv3.0_rs4680fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt04/23/0704/23/07127Genomicunknown
ss75741500ILLUMINA|ILMN_Human_1M_rs4680fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt08/28/0708/29/07129Genomicunknown
ss76724792AFFY|AFFY_6_1M_SNP_A-8586258rev/BC/Tcacaccttgtccttcagccagcgaaatccacc08/28/0708/30/07129Genomicunknown
ss76883807SI_EXO|NT_011519.10_3103421byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt09/20/0709/05/14129Genomicunknown
ss79189355ILLUMINA|HumanHap300v2.0_rs4680fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt04/18/0711/18/07130Genomicunknown
ss83346610KRIBB_YJKIM|KHS439940fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt12/04/0712/04/07130Genomicunknown
ss84156116PHARMGKB_AB_DME|PS206233_PA150018198_301byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt12/06/0709/05/14130Genomicunknown
ss91877550BCMHGSC_JDW|JWB-1510649fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt02/26/0803/02/08129Genomicunknown
ss96092645HUMANGENOME_JCVI|1103691007822fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt03/25/0803/25/08130Genomicunknown
ss99307578SHGC|2962byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt04/17/0809/05/14130Genomicunknown
ss105109907PHARMGKB_PPII|PS207591_PA156007058_23254byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt07/23/0809/05/14130Genomicunknown
ss1125514731000GENOMES|CEU.trio.12.15.2008_3785629_chr22_18331271fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt12/17/0812/17/08130Genomicunknown
ss1140360541000GENOMES|NA19240_2008_12_16_3421872_chr22_18331271fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt12/18/0812/18/08130Genomicunknown
ss117362075ILLUMINA-UK|NA18507_000003761_NCBI36.1_chr22_18331271fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt01/19/0901/19/09130Genomic99 %
ss122352974ILLUMINA|HumanCNV370v1_C_rs4680fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt04/14/0904/15/09131Genomicunknown
ss138335200ENSEMBL|ENSSNP11906816fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt05/15/0905/17/09131Genomicunknown
ss143168685ENSEMBL|ENSSNP8313324fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt12/08/0810/19/09131Genomicunknown
ss154307142ILLUMINA|Human610_Quadv1_B_rs4680-128_B_R_1501789133rev/BC/Tacgggtcaggcatgcacaccttgtccttcagccagcgaaatccaccatccgctgggtgat06/18/0906/20/09131Genomicunknown
ss157034606GMI|GMI_SNP_110766821fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt06/24/0906/25/09131Genomicunknown
ss159483938ILLUMINA|Human660W-Quad_v1_A_rs4680-128_B_R_1501789133rev/BC/Tacgggtcaggcatgcacaccttgtccttcagccagcgaaatccaccatccgctgggtgat07/06/0907/07/09131Genomicunknown
ss159743879SEATTLESEQ|COMT-18331271fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt07/10/0907/10/09131Genomicunknown
ss160697633ILLUMINA|HumanOmni1-Quad_v1-0_B_rs4680-128_B_R_1501789133rev/BC/Tacgggtcaggcatgcacaccttgtccttcagccagcgaaatccaccatccgctgggtgat08/04/0910/04/09131Genomicunknown
ss168891628COMPLETE_GENOMICS|NA19240_36_chr22_18331271fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt10/01/0910/01/09132Genomicunknown
ss169700809OMICIA|2009_August_001_042_COMT_116790_0001fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt10/01/0908/28/12137Genomicunknown
ss171832778COMPLETE_GENOMICS|NA20431_36_chr22_18331271fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt10/01/0910/01/09132Genomicunknown
ss171858824ILLUMINA|HumanCNV370-Quadv3_C_rs4680-128_B_R_1501789133rev/BC/Tacgggtcaggcatgcacaccttgtccttcagccagcgaaatccaccatccgctgggtgat10/01/0910/04/09132Genomicunknown
ss173777592ILLUMINA|Human1M-Duov3_B_rs4680-128_B_R_1501789133rev/BC/Tacgggtcaggcatgcacaccttgtccttcagccagcgaaatccaccatccgctgggtgat10/01/0910/04/09132Genomicunknown
ss204050448BUSHMAN|BUSHMAN-chr22-18331270fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt02/16/1003/10/10132Genomicunknown
ss208830194BCM-HGSC-SUB|BCM_CMT_1011-3285629fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt03/15/1003/20/10132Genomicunknown
ss2286181461000GENOMES|pilot_1_YRI_10427829_chr22_18331271fwd/A/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt04/22/1004/22/10132Genomicunknown
ss2380223031000GENOMES|pilot_1_CEU_7626932_chr22_18331271fwd/A/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt05/01/1005/01/10132Genomicunknown
ss2441516621000GENOMES|pilot_1_CHB+JPT_6036739_chr22_18331271fwd/A/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt05/01/1005/01/10132Genomicunknown
ss244300758ILLUMINA|CVDSNP55v1_A_rs4680rev/BC/Tacgggtcaggcatgcacaccttgtccttcagccagcgaaatccaccatccgctgggtgat06/10/1006/10/10132Genomicunknown
ss275514028OMIM-CURATED-RECORDS|784fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt11/22/1011/22/10133Genomicunknown
ss283587220GMI|GMI_AK_SNP_7907641fwd/A/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt12/16/1012/16/10137Genomicunknown
ss287550246GMI|GMI_NA10851_SNP_3563046fwd/A/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt12/17/1012/17/10138Genomicunknown
ss292736320PJP|SNP_2242678_chr22_18331271fwd/A/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt01/21/1101/21/11134Genomicunknown
ss342536620NHLBI-ESP|ESP2500-chr22-19951271byFreqfwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt03/25/1109/05/14134Genomicunknown
ss410934884ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs4680rev/BC/Tacgggtcaggcatgcacaccttgtccttcagccagcgaaatccaccatccgctgggtgat06/07/1106/07/11135Genomicunknown
ss481001618ILLUMINA|HumanOmni2.5-4v1_B_rs4680-128_B_R_1614288841fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga01/30/1210/28/16137Genomicunknown
ss481022354ILLUMINA|HumanOmniExpress-12v1_C_rs4680-131_B_R_1852937237fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga01/30/1210/27/16137Genomicunknown
ss482004819ILLUMINA|HumanOmni1-Quad_v1-0_C_rs4680-131_B_R_1852937237fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga01/30/1208/28/15146Genomicunknown
ss485295756ILLUMINA|HumanOmni2.5-4v1_D_rs4680-131_B_R_1852937237fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga01/30/1210/28/16137Genomicunknown
ss4911883181000GENOMES|20110521_exome_696116_chr22_19951271fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt02/10/1202/22/12137Genomicunknown
ss491568471EXOME_CHIP|nonsyn_284697_chr_22_19951271fwd/TA/Gatcacccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctgacccgt03/05/1203/06/12137Genomicunknown
ss491819536CLINSEQ_SNP|SNV-chr22-18331271byFreqfwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga03/06/1209/05/14137Genomicunknown
ss537257559ILLUMINA|HumanOmni5-4v1_B_rs4680-131_B_R_1908434916fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga06/22/1208/29/15146Genomicunknown
ss566560789TISHKOFF|snp_chr22_19951271fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga11/22/1211/23/12138Genomicunknown
ss662483744SSMP|22_19951271fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga12/14/1202/14/15138Genomicunknown
ss778542157ILLUMINA|HumanOmni25Exome-8v1_A_rs4680-131_B_R_1852937237fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/30/1307/10/15146Genomicunknown
ss780760189ILLUMINA|HumanOmni25Exome-8v1_A_exm1585902-0_B_R_1919058724fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/30/1307/10/15146Genomicunknown
ss783093748ILLUMINA|HumanOmni2.5-4v1_H_rs4680-131_B_R_1852937237fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/30/1307/29/15146Genomicunknown
ss783439072ILLUMINA|HumanOmniExpressExome-8v1_A_exm1585902-0_B_R_1919058724fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/31/1306/19/15146Genomicunknown
ss784051102ILLUMINA|HumanOmniExpressExome-8v1_A_rs4680-131_B_R_1908434916fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/31/1306/19/15146Genomicunknown
ss825519873ILLUMINA|HumanCNV370v1_C_rs4680-126_B_R_IFB1136522056:0fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga06/24/1311/21/14144Genomicunknown
ss832352251ILLUMINA|HumanOmniExpress-12v1_H_rs4680-131_B_R_1852937237fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga09/17/1306/18/15146Genomicunknown
ss833998797ILLUMINA|HumanOmni2.5-8v1_A_rs4680-131_B_R_1852937237fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga09/18/1307/29/15146Genomicunknown
ss974512061JMKIDD_LAB|KhoeSan_Exomes_chr22_19951271fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga03/06/1403/06/14142Genomicunknown
ss995222796EVA-GONL|EVA-GONL_rs4680fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga04/23/1405/01/14142Genomicunknown
ss1067603859JMKIDD_LAB|HGDP_exomes_chr22_19951271fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga07/09/1407/09/14142Genomicunknown
ss1082570467JMKIDD_LAB|HGDP_WGS_chr22_19951271fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga07/10/1407/12/14142Genomicunknown
ss13666831221000GENOMES|PHASE3_V1_80554152fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga08/16/1408/16/14142Genomicunknown
ss1429219785DDI|DDI_rs4680fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga11/04/1411/04/14144Genomicunknown
ss1579704267EVA_GENOME_DK|EVA_GENOME_DK_snv_rs4680fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga02/19/1502/20/15144Genomicunknown
ss1584126415EVA_FINRISK|EVA_FINRISK_rs4680fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga02/27/1502/27/15144Genomicunknown
ss1639753950EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_22_19951271_44382019fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga03/04/1503/04/15144Genomicunknown
ss1682747983EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_22_19951271_44382019fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga03/04/1503/04/15144Genomicunknown
ss1694228953EVA_EXAC|EVA_EXAC_9709483fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga03/04/1503/04/15144Genomicunknown
ss1711560479EVA_MGP|EVA_XIMO_676239fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga03/09/1503/09/15144Genomicunknown
ss1713731247EVA_SVP|EVA_SVP_1425326fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga03/12/1503/12/15144Genomicunknown
ss1752413977ILLUMINA|OmniExpressExome-8v1-1_B_exm1585902-0_B_R_1919058724fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/27/1506/09/15146Genomicunknown
ss1752413978ILLUMINA|OmniExpressExome-8v1-1_B_rs4680-131_B_R_1908434916fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/27/1506/09/15146Genomicunknown
ss1849931081YSAMUELS|YSAMUELS_snp_53102fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga09/09/1510/21/15147Genomicunknown
ss1917953438ILLUMINA|HumanExome-12v1-1_B_exm1585902-0_B_R_1919058724fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga10/16/1510/16/15147Genomicunknown
ss1938784399WEILL_CORNELL_DGM|SNV:chr22:19951271fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga10/16/1510/19/15147Genomicunknown
ss1946577642ILLUMINA|HumanCoreExome-12v1-0_C_exm1585902-0_B_R_1919058724fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga10/29/1510/29/15147Genomicunknown
ss1959965712ILLUMINA|exm1585902-0_B_R_1919058724fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga11/13/1511/13/15147Genomicunknown
ss1969246877GENOMED|rs4680fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga02/16/1602/16/16147Genomicunknown
ss2030165213JJLAB|SNP10667768fwd/TA/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga08/29/1608/31/16149Genomicunknown
ss2158775171USC_VALOUEV|NC_000022.10:g.19951271G>Afwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga11/17/1611/17/16150Genomicunknown
ss2246457027HUMAN_LONGEVITY|HLI-22-19963748-G-Afwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga11/18/1611/18/16150Genomicunknown
ss2413283895TOPMED|22_19951271_G/Afwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga11/19/1611/19/16150Genomicunknown
ss2629580757SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6803335fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga01/06/1701/06/17151Genomicunknown
ss2633862775ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs4680-131_B_R_2131161fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga02/02/1702/02/17151Genomicunknown
ss2633862776ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs4680-131_B_R_1908434916fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga02/02/1702/02/17151Genomicunknown
ss2635110818ILLUMINA|Cancer_BeadChip_11459870_A_rs4680-128_B_R_1614288841fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga02/02/1702/02/17151Genomicunknown
ss2704518125GRF|rs4680fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga02/13/1702/13/17151Genomicunknown
ss2744960035GNOMAD|exomes_rs4680fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/17/1705/17/17151Genomicunknown
ss2750498451GNOMAD|coding_rs4680fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/17/1705/17/17151Genomicunknown
ss2972986300GNOMAD|rs4680fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/23/1705/23/17151Genomicunknown
ss2985233274AFFY|Axiom_PsorMich_Affx-19100466fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/24/1705/24/17151Genomicunknown
ss2985850713AFFY|Axiom_Smokesc1_Affx-19100466fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/24/1705/24/17151Genomicunknown
ss3019086373SWEGEN|NC_000022.10:g.19951271G>Afwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga05/30/1705/30/17151Genomicunknown
ss3022171896ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1585902-0_B_R_1919058724fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga06/28/1706/28/17151Genomicunknown
ss3023073334EVA_SAMSUNG_MC|EXOMES.22:g19951271g>afwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga07/03/1707/03/17151Genomicunknown
ss3028920322BIOINF_KMB_FNS_UNIBA|22.19963748G>Afwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga07/05/1707/05/17151Genomicunknown
ss3352776493CSHL|rs4680fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga10/02/1710/02/17151Genomicunknown
ss3374061092TOPMED|TOPMed_freeze_5?chr22:19,963,748fwd/A/Gccagcggatggtggatttcgctggctgaaggacaaggtgtgcatgcctga10/03/1710/03/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4680|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AGAGGGCAGC TCTGTGTTAG GACACACTGG GGCCAGCCAG GAAGGGTGGA AAAGATAGGG
 ACCAGCGTGA GCATAGAGGC TAAGGGACCA TGGGAGCTCC AAGCGCGCTC ACAGTGGGGA
 CCAGGTCCTG GGGGCTGGGG ACACCAGGGA GGTGAAATAC CCCTCCAGCG GGTAGGGAGG
 GTGGGCAGAG GAGGGCCAGC GGCCAGGCAT TTGGGAGGGG CTCCTGCTCT TTGGGAGAGG
 TGGGGGGCCG TGCCTGGGGA TCCAAGTTCC CCTCTCTCCA CCTGTGCTCA CCTCTCCTCC
 GTCCCCAACC CTGCACAGGC AAGATCGTGG ACGCCGTGAT TCAGGAGCAC CAGCCCTCCG
 TGCTGCTGGA GCTGGGGGCC TACTGTGGCT ACTCAGCTGT GCGCATGGCC CGCCTGCTGT
 CACCAGGGGC GAGGCTCATC ACCATCGAGA TCAACCCCGA CTGTGCCGCC ATCACCCAGC
 GGATGGTGGA TTTCGCTGGC
 R
 TGAAGGACAA GGTGTGCATG CCTGACCCGT TGTCAGACCT GGAAAAAGGG CCGGCTGTGG
 GCAGGGAGGG CATGCGCACT TTGTCCTCCC CACCAGGTGT TCACACCACG TTCACTGAAA
 ACCCACTATC ACCAGGCCCC TCAGTGCTTC CCAGCCTGGG GCTGAGGAAA GACCCCCCCA
 GCAGCTCAGT GAGGGTCTCA CAGCTCTGGG TAAACTGCCA AGGTGGCACC AGGAGGGGCA
 GGGACAGAGT GGGGCCTTGT CATCCCAGAA CCCTAAAGAA AACTGATGAA TGCTTGTATG
 GGTGTGTAAA GATGGCCTCC TGTCTGTGTG GGCGTGGGCA CTGACAGGCG CTGTTGTATA
 GGTGTGTAGG GATGGCCTCC TGTCTGTGAG GACGTGGGCA CTGACAGGCG CTGTTCCAGG
 TCACCCTTGT GGTTGGAGCG TCCCAGGACA TCATCCCCCA GCTGAAGAAG AAGTATGATG
 TGGACACACT GGACATGGTC

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
G66727 sqnm6022 sqnm95100 Z26491 ABBA01005400 AC000080 AC005663.2 BC000419 BC005867 BE868059 Hs.240013 NM_000754
dbSNP Blast Analysis
UniGene Cluster ID
370408
3D structure mapping
NP_000745  NP_001128633  NP_001128634  NP_009294  
OMIM
116790.0001

  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
A/G
C/C
C/T
G
G/G
N
T/T
HWPA
C
G
N
T
ss105109907PA156007059 2352AF 0.53869045 0.46130952
ss117362075YRI 2IG 1.00000000 0.50000000 0.50000000
ss12673767PDR90Global 164IG 0.146341460.48780489 0.36585367 1.000000000.39024389 0.60975611
ss1366683122EAS 1008AF 0.27980000 0.72020000
EUR 1006AF 0.50000000 0.50000000
AFR 1322AF 0.28059998 0.71939999
AMR 694AF 0.37749997 0.62250000
SAS 978AF 0.44069999 0.55930001
ss138335200ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss143168685ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss168891628YRISub-Saharan African 2IG 1.00000000 0.50000000 0.50000000
ss1694228953ExAc_Aggregated_Populations121358AF 0.46221098 0.53778905
ss171832778PGP 2IG 1.00000000 1.00000000
ss204050448BUSHMAN_POP2 2IG 1.00000000 0.50000000 0.50000000
ss228618146pilot_1_YRI_low_coverage_panel 118AF 0.27118644 0.72881359
ss238022303pilot_1_CEU_low_coverage_panel 120AF 0.52499998 0.47499999
ss244151662pilot_1_CHB+JPT_low_coverage_panel 120AF 0.22499999 0.77499998
ss24702135AFD_EUR_PANELEuropean 48IG 0.166666670.41666666 0.41666666 0.654721000.37500000 0.62500000
AFD_AFR_PANELAfrican American 46IG 0.086956520.47826087 0.43478259 0.751830000.32608697 0.67391306
AFD_CHN_PANELAsian 48IG 0.041666670.45833334 0.50000000 0.438578000.27083334 0.72916669
ss24780327CEPH 184AF 0.50000000 0.50000000
ss342536620ESP_Cohort_Populations 4472GF 0.199016090.48434705 0.31663686 0.402784000.44118962 0.55881035
ss35031502CHMJAsian 74IG0.29729730 0.68918920 0.01351351 0.29729730 0.689189200.01351351
ss41527572AoD_African_American 90AF 0.25999999 0.74000001
AoD_Caucasian 92AF 0.47999999 0.51999998
ss48429990AGI_ASP populationmultiple 22IG 0.545454560.18181819 0.272727280.05004300 0.63636363 0.36363637
ss491819536CSAgilent 1113GF 0.250999990.48300001 0.26600000 0.438578000.49249998 0.50749999
ss4933092JBIC-allele 1292AF 0.31889999 0.68110001
ss5586357P1 204AF 0.167000010.45099998 0.38200000 0.583882000.39199996 0.60799998
CAUC1 62AF 0.193999990.54799998 0.25800002 0.583882000.46799999 0.53200001
AFR1 48AF 0.042000000.37500000 0.58300000 1.000000000.22899999 0.77100003
HISP1 46AF 0.260999980.56500000 0.17399999 0.527089000.54299998 0.45699999
PAC1 48AF 0.167000000.29200000 0.54100001 0.150222000.31299999 0.68699998
ss6312623PO000020C 186AF 0.38000000 0.62000000
ss65824277KHP1 180AF 0.088888890.36666667 0.54444444 0.479500000.27222222 0.72777778
ss66862091HSP_GENO_PANEL 52IG 0.115384620.53846157 0.34615386 0.527089000.38461539 0.61538464
CEU_GENO_PANELEuropean 68IG 0.294117660.52941179 0.17647059 0.751830000.55882353 0.44117647
AAM_GENO_PANELAfrican American 122IG 0.098360660.42622951 0.47540984 1.000000000.31147540 0.68852460
CHB_GENO_PANELAsian 90IG 0.088888890.33333334 0.57777780 0.438578000.25555557 0.74444443
YRI_GENO_PANELSub-Saharan African 120IG 0.083333340.41666666 0.50000000 1.000000000.29166666 0.70833331
JPT_GENO_PANELAsian 24IG 0.58333331 0.41666666 0.317310000.29166666 0.70833331
ss69277073HapMap-CEUEuropean 120IG 0.250000000.53333336 0.21666667 0.654721000.51666665 0.48333332
HapMap-HCBAsian 90IG 0.088888890.33333334 0.57777780 0.438578000.25555557 0.74444443
HapMap-JPTAsian 90IG 0.044444450.37777779 0.57777780 0.751830000.23333333 0.76666665
HapMap-YRISub-Saharan African 120IG 0.083333340.41666666 0.50000000 1.000000000.29166666 0.70833331
ss69367705PA137869186 240AF 0.36250001 0.63749999
ss76883807HapMap-CEUEuropean 226IG 0.247787610.46017700 0.29203540 0.438578000.47787610 0.52212387
HapMap-HCBAsian 86IG 0.069767450.32558140 0.60465115 0.583882000.23255815 0.76744187
HapMap-JPTAsian 172IG 0.069767450.43023255 0.50000000 0.654721000.28488371 0.71511626
HapMap-YRISub-Saharan African 226IG 0.088495570.45132744 0.46017700 0.654721000.31415930 0.68584073
HAPMAP-ASW 98IG 0.122448980.28571430 0.59183675 0.099721000.26530612 0.73469388
HAPMAP-CHBAsian 82IG 0.146341460.43902439 0.41463414 0.751830000.36585367 0.63414633
HAPMAP-CHD 170IG 0.047058820.50588238 0.44705883 0.099721000.30000001 0.69999999
HAPMAP-GIH 176IG 0.215909090.40909091 0.37500000 0.150222000.42045453 0.57954544
HAPMAP-LWK 178IG 0.101123590.42696628 0.47191012 1.000000000.31460676 0.68539327
HAPMAP-MEX 100IG 0.160000000.46000001 0.38000000 1.000000000.38999999 0.61000001
HAPMAP-MKK 286IG 0.090909090.37062937 0.53846157 0.402784000.27622378 0.72377622
HAPMAP-TSI 176IG 0.204545450.51136363 0.28409091 1.000000000.46022728 0.53977275
ss84156116PA150018199 354AF 0.34180790 0.65819210
ss869771NIHPDRGlobal 74IG 0.162162150.35135135 0.48648649 0.200325000.33783785 0.66216218
ss96092645J. Craig Venter 2IG 1.00000000 1.00000000
ss99307578P24 48AF 0.51999998 0.47999999

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict		Additional Freq. Data
0.499+/-0.0270000ALFRED: 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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNYESYES

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