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Reference SNP (refSNP) Cluster Report: rs6897932                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:T=0.2327/28236 (ExAC)
T=0.1725/864 (1000 Genomes)
T=0.2141/2784 (GO-ESP)
T=0.2009/25224 (TOPMED)
HGVS Names
  • CM000667.2:g.35874473C>T
  • NC_000005.10:g.35874473C>T
  • NC_000005.9:g.35874575C>T
  • NG_009567.1:g.22585C>T
  • NM_002185.2:c.731C>T
  • NM_002185.3:c.731C>T
  • NM_002185.4:c.731C>T
  • NP_002176.2:p.Thr244Ile
  • NR_120485.1:n.641-1039C>T
  • NR_120485.2:n.667-1039C>T
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 ss278245368 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6897932 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
ss10266336BCM_SSAHASNP|chr5.NT_006576.13_18301320fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc06/27/0310/10/03116Genomicunknown
ss14657734WI_SSAHASNP|chr5.NT_006576.14_18326681fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc11/05/0311/22/03119Genomicunknown
ss16336732PGA-UW-FHCRC|IL7R-019544byFreqfwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc12/01/0304/07/04120Genomicunknown
ss20235132CSHL-HAPMAP|CSHL-HuFF-200402.chr5.NT_006576.14_18326681fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc02/21/0403/04/04120Genomicunknown
ss44625331ABI|hCV2025977byFreqfwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc07/19/0511/03/06126Genomicunknown
ss48428317APPLERA_GI|hCV2025977byFreqfwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc09/28/0511/03/06126Genomicunknown
ss52087759PGA-UW-FHCRC|IL7R_019544byFreqfwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc04/28/0603/31/08127Genomicunknown
ss66201810AFFY|SNP_A-2285014byFreqfwd/BC/Tgatcctatcttactaacatcagcattttgagt10/27/0603/31/08127Genomicunknown
ss66546320ILLUMINA|HumanHap300v1.1_rs6897932fwd/TC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc11/09/0611/09/06127Genomicunknown
ss67513710ILLUMINA|HumanHap550v1.1_rs6897932fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc11/14/0611/14/06127Genomicunknown
ss67878347ILLUMINA|HumanHap650Yv1.0_rs6897932fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc11/14/0611/14/06127Genomicunknown
ss68932343PERLEGEN|PGP04771987byFreqfwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc01/30/0703/31/08127Genomicunknown
ss70894260ILLUMINA|HumanHap550v3.0__rs6897932rev/TA/Ggcgacagagaaaaaactcaaaatgctgatgttagtaagataggatccatctcccctggaa04/20/0703/31/08130Genomicunknown
ss71488020ILLUMINA|HumanHap650Yv3.0_rs6897932fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc04/23/0704/23/07127Genomicunknown
ss75619125ILLUMINA|ILMN_Human_1M_rs6897932fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc08/28/0708/29/07129Genomicunknown
ss76290281AFFY|AFFY_6_1M_SNP_A-2285014byFreqfwd/BC/Tgatcctatcttactaacatcagcattttgagt08/28/0703/07/10129Genomicunknown
ss79237970ILLUMINA|HumanHap300v2.0_rs6897932fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc04/18/0711/18/07130Genomicunknown
ss84571132KRIBB_YJKIM|KHS746840fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc12/04/0712/07/07130Genomicunknown
ss93060731BCMHGSC_JDW|JWB-1963475fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc02/26/0803/03/08129Genomicunknown
ss104186048BGI|BGI_rs6897932fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc06/07/0806/18/09131Genomicunknown
ss1089580691000GENOMES|CEU.trio.12.15.2008_1244111_chr5_35910332fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc12/16/0812/16/08130Genomicunknown
ss116568162ILLUMINA-UK|NA18507_000054936_NCBI36.1_chr5_35910332fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc01/17/0901/17/09130Genomic99 %
ss122643020ILLUMINA|HumanCNV370v1_C_rs6897932fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc04/14/0904/15/09131Genomicunknown
ss143035345ENSEMBL|ENSSNP12814801fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc06/05/0906/05/09131Genomicunknown
ss154390556ILLUMINA|Human610_Quadv1_B_rs6897932-128_T_R_1501823112rev/TA/Ggcgacagagaaaaaactcaaaatgctgatgttagtaagataggatccatctcccctggaa06/18/0906/20/09131Genomicunknown
ss159566199ILLUMINA|Human660W-Quad_v1_A_rs6897932-128_T_R_1501823112rev/TA/Ggcgacagagaaaaaactcaaaatgctgatgttagtaagataggatccatctcccctggaa07/06/0907/07/09131Genomicunknown
ss159709271SEATTLESEQ|IL7R-35910332fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc07/10/0907/10/09131Genomicunknown
ss160822631ILLUMINA|HumanOmni1-Quad_v1-0_B_rs6897932-128_T_R_1501823112rev/TA/Ggcgacagagaaaaaactcaaaatgctgatgttagtaagataggatccatctcccctggaa08/04/0910/04/09131Genomicunknown
ss166416068COMPLETE_GENOMICS|NA20431_36_chr5_35910332fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc09/30/0909/30/09132Genomicunknown
ss172215104ILLUMINA|HumanCNV370-Quadv3_C_rs6897932-128_T_R_1501823112rev/TA/Ggcgacagagaaaaaactcaaaatgctgatgttagtaagataggatccatctcccctggaa10/01/0910/04/09132Genomicunknown
ss173141820AFFY|GenomeWideSNP_5_SNP_A-2285014fwd/BC/Tgatcctatcttactaacatcagcattttgagt10/01/0910/03/09132Genomicunknown
ss174159183ILLUMINA|Human1M-Duov3_B_rs6897932-128_T_R_1501823112rev/TA/Ggcgacagagaaaaaactcaaaatgctgatgttagtaagataggatccatctcccctggaa10/01/0910/04/09132Genomicunknown
ss206730480BCM-HGSC-SUB|BCM_CMT_1011-1035356fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc03/15/1003/18/10132Genomicunknown
ss2216232531000GENOMES|pilot_1_YRI_3432936_chr5_35910332fwd/C/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc04/22/1004/22/10132Genomicunknown
ss2329041261000GENOMES|pilot_1_CEU_2508755_chr5_35910332fwd/C/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc05/01/1005/01/10132Genomicunknown
ss2400865461000GENOMES|pilot_1_CHB+JPT_1971623_chr5_35910332fwd/C/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc05/01/1005/01/10132Genomicunknown
ss244306951ILLUMINA|CVDSNP55v1_A_rs6897932rev/TA/Ggcgacagagaaaaaactcaaaatgctgatgttagtaagataggatccatctcccctggaa06/10/1006/10/10132Genomicunknown
ss278245368GMI|GMI_AK_SNP_2565605fwd/C/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc12/16/1012/16/10137Genomicunknown
ss293567975PJP|SNP_3074333_chr5_35910332fwd/C/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc01/21/1101/21/11134Genomicunknown
ss342179531NHLBI-ESP|ESP2500-chr5-35874575byFreqfwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc03/25/1109/05/14134Genomicunknown
ss481392539ILLUMINA|HumanOmni2.5-4v1_B_rs6897932-128_T_R_1616887956fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct01/30/1210/28/16137Genomicunknown
ss481419046ILLUMINA|HumanOmniExpress-12v1_C_rs6897932-131_T_R_1852958774fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct01/30/1210/27/16137Genomicunknown
ss482397630ILLUMINA|HumanOmni1-Quad_v1-0_C_rs6897932-131_T_R_1852958774fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct01/30/1208/28/15146Genomicunknown
ss485491351ILLUMINA|HumanOmni2.5-4v1_D_rs6897932-131_T_R_1852958774fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct01/30/1210/28/16137Genomicunknown
ss4909018711000GENOMES|20110521_exome_409669_chr5_35874575fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc02/10/1202/21/12137Genomicunknown
ss491271907GSK-GENETICS|chr5_35910332fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc03/02/1203/02/12137Genomicunknown
ss491365494EXOME_CHIP|nonsyn_81721_chr_5_35874575fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc03/05/1203/05/12137Genomicunknown
ss491865835CLINSEQ_SNP|SNV-chr5-35910332byFreqfwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct03/06/1209/05/14137Genomicunknown
ss537407436ILLUMINA|HumanOmni5-4v1_B_rs6897932-131_T_R_1885439323fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct06/22/1208/29/15146Genomicunknown
ss558323596TISHKOFF|snp_chr5_35874575fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct11/22/1211/23/12138Genomicunknown
ss652178698SSMP|5_35874575fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct12/14/1202/10/15138Genomicunknown
ss778955918ILLUMINA|HumanOmni25Exome-8v1_A_rs6897932-131_T_R_1852958774fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/30/1307/09/15146Genomicunknown
ss780836171ILLUMINA|HumanOmni25Exome-8v1_A_exm449711-0_T_R_1921126489fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/30/1307/09/15146Genomicunknown
ss783191201ILLUMINA|HumanOmni2.5-4v1_H_rs6897932-131_T_R_1852958774fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/30/1307/28/15146Genomicunknown
ss783519304ILLUMINA|HumanOmniExpressExome-8v1_A_exm449711-0_T_R_1921126489fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/31/1306/19/15146Genomicunknown
ss784146334ILLUMINA|HumanOmniExpressExome-8v1_A_rs6897932-131_T_R_1885439323fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/31/1306/19/15146Genomicunknown
ss825568488ILLUMINA|HumanCNV370v1_C_rs6897932-126_T_R_IFB1136461118:0fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct06/24/1311/21/14147Genomicunknown
ss832451012ILLUMINA|HumanOmniExpress-12v1_H_rs6897932-131_T_R_1852958774fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct09/17/1306/18/15146Genomicunknown
ss834417810ILLUMINA|HumanOmni2.5-8v1_A_rs6897932-131_T_R_1852958774fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct09/18/1307/28/15146Genomicunknown
ss974455488JMKIDD_LAB|KhoeSan_Exomes_chr5_35874575fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct03/06/1403/06/14142Genomicunknown
ss981444768EVA-GONL|EVA-GONL_rs6897932fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct04/23/1404/24/14142Genomicunknown
ss1067467510JMKIDD_LAB|HGDP_exomes_chr5_35874575fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct07/09/1407/09/14142Genomicunknown
ss1072541074JMKIDD_LAB|HGDP_WGS_chr5_35874575fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct07/10/1407/11/14142Genomicunknown
ss13146360571000GENOMES|PHASE3_V1_26357028fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct08/16/1408/16/14142Genomicunknown
ss1397410194HAMMER_LAB|HAMMER_LAB_rs6897932fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct09/30/1409/30/14146Genomicunknown
ss1430308143DDI|DDI_rs6897932fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct11/04/1411/05/14144Genomicunknown
ss1457610015CLINVAR|SCV000085390fwd/BC/Tttccaggggagatggatcctatcttactaacatcagcattttgagttttttctctgtcgc11/23/1411/23/14142Genomicunknown
ss1581092971EVA_GENOME_DK|EVA_GENOME_DK_snv_rs6897932fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct02/19/1502/20/15144Genomicunknown
ss1584038327EVA_FINRISK|EVA_FINRISK_rs6897932fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct02/27/1502/27/15144Genomicunknown
ss1590966963EVA_DECODE|EVA_DECODE_5_35910332_297650_rs6897932fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct03/02/1503/03/15144Genomicunknown
ss1612651580EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_5_35874575_14581542fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct03/04/1503/04/15144Genomicunknown
ss1655645613EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_5_35874575_14581542fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct03/04/1503/04/15144Genomicunknown
ss1687780702EVA_EXAC|EVA_EXAC_2764965fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct03/04/1503/04/15144Genomicunknown
ss1711084261EVA_MGP|EVA_XIMO_200021fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct03/09/1503/09/15144Genomicunknown
ss1712756914EVA_SVP|EVA_SVP_451281fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct03/12/1503/12/15144Genomicunknown
ss1752573422ILLUMINA|OmniExpressExome-8v1-1_B_exm449711-0_T_R_2060149237fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/27/1506/09/15146Genomicunknown
ss1752573423ILLUMINA|OmniExpressExome-8v1-1_B_rs6897932-131_T_R_1885439323fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/27/1506/09/15146Genomicunknown
ss1917788907ILLUMINA|HumanExome-12v1-1_B_exm449711-0_T_R_2060149237fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct10/16/1510/16/15147Genomicunknown
ss1924707732WEILL_CORNELL_DGM|SNV:chr5:35874575fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct10/16/1510/17/15147Genomicunknown
ss1946141758ILLUMINA|HumanCoreExome-12v1-0_C_exm449711-0_T_R_2065687875fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct10/29/1510/29/15147Genomicunknown
ss1970063405GENOMED|rs6897932fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct02/16/1602/16/16147Genomicunknown
ss2022956769JJLAB|SNP3459324fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct08/29/1608/30/16149Genomicunknown
ss2094938027ILLUMINA|Immuno_BeadChip_11419691_B_imm_5_35910332-1_B_F_1670174829fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct09/27/1609/27/16150Genomicunknown
ss2095154489ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs6897932-138_T_R_2264363375fwd/BC/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct09/27/1609/27/16150Genomicunknown
ss2151107472USC_VALOUEV|NC_000005.9:g.35874575C>Tfwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct11/17/1611/17/16150Genomicunknown
ss2272852990HUMAN_LONGEVITY|HLI-5-35874473-C-Tfwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct11/18/1611/18/16150Genomicunknown
ss2440902351TOPMED|5_35874575_C/Tfwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct11/20/1611/20/16150Genomicunknown
ss2625978823SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV2216103fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct01/06/1701/06/17151Genomicunknown
ss2634267614ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs6897932-131_T_R_18854393fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct02/02/1702/02/17151Genomicunknown
ss2635142768ILLUMINA|Cancer_BeadChip_11459870_A_rs6897932-128_T_R_1616887956fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct02/02/1702/02/17151Genomicunknown
ss2706644024GRF|rs6897932fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct02/13/1702/13/17151Genomicunknown
ss2734954160GNOMAD|exomes_rs6897932fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/17/1705/17/17151Genomicunknown
ss2747371331GNOMAD|coding_rs6897932fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/17/1705/17/17151Genomicunknown
ss2823239929GNOMAD|rs6897932fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/18/1705/18/17151Genomicunknown
ss2985319147AFFY|Axiom_PsorMich_Affx-26496760fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/24/1705/24/17151Genomicunknown
ss2985949727AFFY|Axiom_Smokesc1_Affx-26496760fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/24/1705/24/17151Genomicunknown
ss2996737027SWEGEN|NC_000005.9:g.35874575C>Tfwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct05/30/1705/30/17151Genomicunknown
ss3022481016ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm449711-0_T_R_1921126489fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct06/28/1706/28/17151Genomicunknown
ss3023061133EVA_SAMSUNG_MC|EXOMES.5:g35874575c>tfwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct07/03/1707/03/17151Genomicunknown
ss3025263700BIOINF_KMB_FNS_UNIBA|5.35874473C>Tfwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct07/05/1707/05/17151Genomicunknown
ss3346335243CSHL|rs6897932fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct10/02/1710/02/17151Genomicunknown
ss3460973644TOPMED|TOPMed_freeze_5?chr5:35,874,473fwd/C/Tggggagatggatcctatcttactaacatcagcattttgagttttttctct10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6897932|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CTAAGGCCCC TTTAAGAAGC ACCTTTATTG GTGTCAGGTA TGCAGGCAAG TGCGGCTGTC
 CTATGTCTCC TTTTCCAGAA GGATGAAGAT GTCTTTGGGA CTGGAACTGA GAATGTGTAG
 GAACTGAGAC ATCTCCTCCC TAAAATTTGC AACAGGGGTG AACATCCCTC TCATCATCTC
 CTGCTCTGGC TTCTTTTCCT TGGTAGAAAG TCAAGAAGGG AAGAGAGCAT TGGTACCTTT
 GATGCTAGAT CACGTTTACA TTTCAAGTGG CAGATGCTCT GGGCCTGGTC ACCCAAGTCA
 ATGCCTTTTA AACCAAAATC CCTCCATAAA GCTGTCAAAT ATGTCTCTTA ACTGAAAAGC
 AACTTTCAGG AAATAATAAG TGGGCCCACA TTACTAAGTA AATGCAAAGC ACCCTGAGAC
 CCTACCCCCA CTGCATGGCT ACTGAATGCT CACCACAATC TATTCTTGCT TTCCAGGGGA
 GATGGATCCT ATCTTACTAA
 Y
 CATCAGCATT TTGAGTTTTT TCTCTGTCGC TCTGTTGGTC ATCTTGGCCT GTGTGTTATG
 GAAAAAAAGG TGACCTTCTT CAACTAATAA AGAGGGTGAT TGTGTGGGAT CACGGACAGT
 CAGAGCTTAA GCCCCATTTA TTGATGAGAA AACCACAAAG GGGATTAAGG CATTTCACGA
 ATTTAGTGCC CAGTATCCCT ATCTATCCTC AGCGAATTTC CACAGTTAAT TTCATAAGAG
 GCAAAAAGAT ATTAACTGGA CATTAGGCAA ACGCTGTCCC CAAAGTAAGA ATTCCGTAAT
 GCAATGTTTC CCAAGCTTTT CTTCCAGTAT CTCCTAAAGG TTGCAGAAGC CATCATTCAT
 GGCAAATGCA CAATGTACTT GAAGTCTTGA CTTTAAGCAT ATAAATTCAT GGGATTTTTT
 ATACTAATCC ATGCTAAGGC TATGTTTGTT TCATCATAAA AATGATGTTT TAAACATGCA
 CTTGTTAAAT TACTTACTAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_006576
dbSNP Blast Analysis
UniGene Cluster ID
362807
OMIM
612595

  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.
SourceC/C
C/T
T/T
HWPC
T
ss116568162YRI 2IG 1.00000000 0.500000000.50000000
ss1314636057EAS 1008AF 0.831299960.16870001
EUR 1006AF 0.728600030.27140000
AFR 1322AF 0.934200050.06580000
AMR 694AF 0.816999970.18300000
SAS 978AF 0.788299980.21170001
ss143035345ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss16336732PGA-AFRICAN-PANELAfrican American 46IG0.826086940.130434780.043478260.150222000.891304370.10869565
PGA-EUROPEAN-PANELEuropean 46IG0.478260870.391304340.130434780.654721000.673913060.32608697
ss166416068PGP 2IG 1.00000000 0.500000000.50000000
ss1687780702ExAc_Aggregated_Populations121412AF 0.767296490.23270352
ss221623253pilot_1_YRI_low_coverage_panel 118AF 0.940677940.05932203
ss232904126pilot_1_CEU_low_coverage_panel 120AF 0.741666670.25833333
ss240086546pilot_1_CHB+JPT_low_coverage_panel 120AF 0.833333310.16666667
ss342179531ESP_Cohort_Populations 4548GF0.640281440.314863680.044854880.250592000.797713280.20228672
ss44625331HapMap-CEUEuropean 226IG0.592920360.327433620.079646020.250592000.756637160.24336283
HapMap-HCBAsian 86IG0.697674390.209302320.093023260.050043000.802325610.19767442
HapMap-JPTAsian 172IG0.662790720.313953490.023255810.583882000.819767420.18023255
HapMap-YRISub-Saharan African 226IG0.902654890.09734514 1.000000000.951327440.04867257
HAPMAP-ASW 98IG0.836734710.122448980.040816330.025056000.897959170.10204082
HAPMAP-CHBAsian 82IG0.756097560.195121940.048780490.200325000.853658560.14634146
HAPMAP-CHD 170IG0.623529430.341176480.035294120.751830000.794117630.20588236
HAPMAP-GIH 176IG0.738636370.26136363 0.527089000.869318190.13068181
HAPMAP-LWK 178IG0.898876430.10112359 1.000000000.949438210.05056180
HAPMAP-MEX 100IG0.600000020.340000000.060000001.000000000.769999980.23000000
HAPMAP-MKK 286IG0.797202830.188811180.013986011.000000000.891608420.10839161
HAPMAP-TSI 176IG0.590909060.375000000.034090910.438578000.778409060.22159091
ss48428317AGI_ASP populationmultiple 74IG0.621621610.270270260.108108110.150222000.756756780.24324325
ss491865835CSAgilent 1324GF0.584415560.365634350.049950060.583882000.767232780.23276724
ss52087759HSP_GENO_PANEL 118IG0.644067820.288135590.067796610.294266000.788135590.21186441
YRI_GENO_PANELSub-Saharan African 120IG0.899999980.10000000 1.000000000.949999990.05000000
AAM_GENO_PANELAfrican American 122IG0.836065590.16393442 1.000000000.918032770.08196721
CEU_GENO_PANELEuropean 120IG0.566666660.383333330.050000000.751830000.758333330.24166666
CHB_GENO_PANELAsian 90IG0.688888910.222222220.088888890.050043000.800000010.20000000
JPT_GENO_PANELAsian 76IG0.684210540.31578946 0.583882000.842105270.15789473
ss66201810HapMap-CEUEuropean 118IG0.576271180.372881350.050847461.000000000.762711880.23728813
HapMap-HCBAsian 90IG0.688888910.222222220.088888890.050043000.800000010.20000000
HapMap-JPTAsian 90IG0.644444470.333333340.022222220.583882000.811111090.18888889
HapMap-YRISub-Saharan African 120IG0.899999980.10000000 1.000000000.949999990.05000000
ss68932343HapMap-CEUEuropean 120IG0.566666660.383333330.050000000.751830000.758333330.24166666
HapMap-HCBAsian 90IG0.688888910.222222220.088888890.050043000.800000010.20000000
HapMap-JPTAsian 90IG0.644444470.333333340.022222220.583882000.811111090.18888889
HapMap-YRISub-Saharan African 120IG0.899999980.10000000 1.000000000.949999990.05000000
ss76290281ICMHP 8IG0.75000000 0.25000000 0.750000000.25000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.357+/-0.2260000ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNYES

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