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Reference SNP (refSNP) Cluster Report: rs10246939                 ** With drug-response allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
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 drug-response allele [ClinVar]
MAF/MinorAlleleCount:C=0.4761/57722 (ExAC)
T=0.4794/2401 (1000 Genomes)
C=0.4632/6024 (GO-ESP)
C=0.4906/61602 (TOPMED)
HGVS Names
  • CM000669.2:g.141972804T>C
  • NC_000007.13:g.141672604T>C
  • NC_000007.14:g.141972804T>C
  • NG_016141.1:g.5970A>G
  • NM_176817.4:c.886A>G
  • NP_789787.4:p.Ile296Val
  • NW_003571040.1:g.114755T>C
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 ss279562743 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10246939 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
ss14116730WUGSC_SSAHASNP|chr7.NT_007914.13_2264156fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat11/05/0311/22/03119Genomicunknown
ss17168278CSHL-HAPMAP|CSHL-HuAA-200402.chr7.NT_007914.13_2264156fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat02/17/0403/04/04120Genomicunknown
ss24483477PERLEGEN|afd1590232byFreqfwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat08/10/0409/13/04123Genomicunknown
ss44794886ABI|hCV9506826byFreqfwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat07/19/0511/03/06126Genomicunknown
ss65724575ILLUMINA|Human1-rs10246939fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat10/10/0610/10/06127Genomicunknown
ss66548860ILLUMINA|HumanHap300v1.1_rs10246939fwd/TC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat11/09/0611/09/06127Genomicunknown
ss66878131ILLUMINA|HumanHap550v1.1_rs10246939fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat11/14/0611/14/06127Genomicunknown
ss66964944ILLUMINA|HumanHap650Yv1.0_rs10246939fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat11/14/0611/14/06127Genomicunknown
ss70362901ILLUMINA|HumanHap300v2.0_rs10246939fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat04/18/0711/17/07127Genomicunknown
ss70473784ILLUMINA|HumanHap550v3.0__rs10246939fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat04/20/0703/29/08130Genomicunknown
ss70996103ILLUMINA|HumanHap650Yv3.0_rs10246939fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat04/23/0704/23/07127Genomicunknown
ss74807316AFFY|SNP_M-178224fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat08/09/0708/09/07128Genomicunknown
ss74944252ILLUMINA|ILMN_Human_1M_rs10246939fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat08/28/0708/29/07129Genomicunknown
ss78266506HGSV|Cor12878_SNV_20070510.chr7_141125788fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat10/17/0710/18/07129Genomicunknown
ss84928086KRIBB_YJKIM|KHS850879fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat12/04/0712/08/07130Genomicunknown
ss93779280BCMHGSC_JDW|JWB-2384065fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat02/26/0803/05/08129Genomicunknown
ss98346061HUMANGENOME_JCVI|1103652723418fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat03/31/0803/31/08130Genomicunknown
ss105578893BGI|BGI_rs10246939fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat09/10/0806/18/09130Genomicunknown
ss1125932881000GENOMES|CEU.trio.12.15.2008_1870298_chr7_141319073fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat12/17/0812/17/08130Genomicunknown
ss1145491061000GENOMES|NA19240_2008_12_16_1686175_chr7_141319073fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat12/18/0812/18/08130Genomicunknown
ss116349053ILLUMINA-UK|NA18507_000174283_NCBI36.1_chr7_141319073fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat01/16/0901/17/09130Genomic99 %
ss121289178ILLUMINA|HumanCNV370v1_C_rs10246939fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat04/14/0904/14/09131Genomicunknown
ss143028362ENSEMBL|ENSSNP6791066fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat06/05/0906/05/09131Genomicunknown
ss152614991ILLUMINA|Human610_Quadv1_B_rs10246939-128_B_F_1501621235fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat06/18/0906/19/09131Genomicunknown
ss155604562GMI|GMI_SNP_78324624fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat06/24/0906/24/09131Genomicunknown
ss159118147ILLUMINA|Human660W-Quad_v1_A_rs10246939-128_B_F_1501621235fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat07/06/0907/06/09131Genomicunknown
ss159715886SEATTLESEQ|TAS2R38-141319073fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat07/10/0907/10/09131Genomicunknown
ss159882706ILLUMINA|HumanOmni1-Quad_v1-0_B_rs10246939-128_B_F_1501621235fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat08/04/0910/01/09131Genomicunknown
ss162791436COMPLETE_GENOMICS|NA07022_36_chr7_141319073fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat09/28/0909/29/09132Genomicunknown
ss165558642COMPLETE_GENOMICS|NA19240_36_chr7_141319073fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat09/29/0909/30/09132Genomicunknown
ss169334901ILLUMINA|HumanCNV370-Quadv3_C_rs10246939-128_B_F_1501621235fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat10/01/0910/02/09132Genomicunknown
ss169919639ILLUMINA|Human1M-Duov3_B_rs10246939-128_B_F_1501621235fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat10/01/0910/01/09132Genomicunknown
ss198400225BUSHMAN|BUSHMAN-chr7-141319072fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat02/16/1003/06/10132Genomicunknown
ss208244102BCM-HGSC-SUB|BCM_CMT_1011-1548527fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat03/15/1003/19/10132Genomicunknown
ss2233761491000GENOMES|pilot_1_YRI_5185832_chr7_141319073fwd/C/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat04/22/1004/22/10132Genomicunknown
ss2341996921000GENOMES|pilot_1_CEU_3804321_chr7_141319073fwd/C/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat05/01/1005/01/10132Genomicunknown
ss2411059371000GENOMES|pilot_1_CHB+JPT_2991014_chr7_141319073fwd/C/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat05/01/1005/01/10132Genomicunknown
ss244268435ILLUMINA|CVDSNP55v1_A_rs10246939fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat06/10/1006/10/10132Genomicunknown
ss254726576BL|SNP154308_7_141319073fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat08/19/1008/19/10134Genomicunknown
ss275516294OMICIA|2010_April_001_101_TAS2R38_607751_0003fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat11/30/1008/29/12137Genomicunknown
ss279562743GMI|GMI_AK_SNP_3882990fwd/C/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat12/16/1012/16/10137Genomicunknown
ss285733855GMI|GMI_NA10851_SNP_1746628fwd/C/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat12/17/1012/17/10138Genomicunknown
ss290489994OMIM-CURATED-RECORDS|15178rev/TA/Gatggcagcttgtccctctgggcatgcagcctcctgatctcaggcaatgccaagttgagga01/19/1101/19/11133Genomicunknown
ss293981217PJP|SNP_3487575_chr7_141319073fwd/C/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat01/21/1101/21/11134Genomicunknown
ss342248484NHLBI-ESP|ESP2500-chr7-141672604byFreqfwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat03/25/1109/05/14134Genomicunknown
ss479236842ILLUMINA|HumanOmni2.5-4v1_B_rs10246939-128_B_F_1615264640fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct01/30/1210/29/16137Genomicunknown
ss479239508ILLUMINA|HumanOmniExpress-12v1_C_rs10246939-131_B_F_1857057574fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct01/30/1210/27/16137Genomicunknown
ss479596764ILLUMINA|HumanOmni1-Quad_v1-0_C_rs10246939-131_B_F_1865407654fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct01/30/1208/28/15146Genomicunknown
ss484419181ILLUMINA|HumanOmni2.5-4v1_D_rs10246939-131_B_F_1857057574fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct01/30/1210/28/16137Genomicunknown
ss4909558721000GENOMES|20110521_exome_463670_chr7_141672604fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat02/10/1202/21/12137Genomicunknown
ss491406757EXOME_CHIP|nonsyn_122983_chr_7_141672604fwd/BC/Ttcctcaacttggcattgcctgagatcaggaggctgcatgcccagagggacaagctgccat03/05/1203/05/12137Genomicunknown
ss491916389CLINSEQ_SNP|SNV-chr7-141319073byFreqfwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct03/06/1209/05/14137Genomicunknown
ss536594343ILLUMINA|HumanOmni5-4v1_B_rs10246939-131_B_F_1891272379fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct06/22/1208/29/15146Genomicunknown
ss560356335TISHKOFF|snp_chr7_141672604fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct11/22/1211/23/12138Genomicunknown
ss654769276SSMP|7_141672604fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct12/14/1202/11/15138Genomicunknown
ss778728199ILLUMINA|HumanOmni25Exome-8v1_A_rs10246939-131_B_F_1865407654fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct05/30/1307/10/15142Genomicunknown
ss782656034ILLUMINA|HumanOmni2.5-4v1_H_rs10246939-131_B_F_1857057574fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct05/30/1307/29/15142Genomicunknown
ss783549707ILLUMINA|HumanOmniExpressExome-8v1_A_exm663407-0_B_F_1918444373fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct05/31/1306/19/15142Genomicunknown
ss783625164ILLUMINA|HumanOmniExpressExome-8v1_A_rs10246939-131_B_F_1891272379fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct05/31/1306/19/15142Genomicunknown
ss825332632ILLUMINA|HumanCNV370v1_C_rs10246939-126_B_F_IFB1154863663:0fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct06/24/1311/21/14144Genomicunknown
ss831906449ILLUMINA|HumanOmniExpress-12v1_H_rs10246939-131_B_F_1857057574fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct09/17/1306/19/15144Genomicunknown
ss832630879ILLUMINA|Human660W-Quad_v1_C_rs10246939-131_B_F_1857057574fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct09/18/1307/02/15142Genomicunknown
ss833221568ILLUMINA|Human660W-Quad_v1_H_rs10246939-131_B_F_1857057574fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct09/18/1307/02/15142Genomicunknown
ss834187665ILLUMINA|HumanOmni2.5-8v1_A_rs10246939-131_B_F_1865407654fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct09/18/1307/29/15142Genomicunknown
ss974466190JMKIDD_LAB|KhoeSan_Exomes_chr7_141672604fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct03/06/1403/06/14142Genomicunknown
ss984891377EVA-GONL|EVA-GONL_rs10246939fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct04/23/1404/24/14142Genomicunknown
ss1067492956JMKIDD_LAB|HGDP_exomes_chr7_141672604fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct07/09/1407/09/14142Genomicunknown
ss1075049385JMKIDD_LAB|HGDP_WGS_chr7_141672604fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct07/10/1407/11/14142Genomicunknown
ss13274874711000GENOMES|PHASE3_V1_39752714fwd/C/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct08/16/1408/16/14142Genomicunknown
ss1397508449HAMMER_LAB|HAMMER_LAB_rs10246939fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct09/30/1409/30/14146Genomicunknown
ss1431305165DDI|DDI_rs10246939fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct11/04/1411/05/14144Genomicunknown
ss1582436478EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10246939fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct02/19/1502/20/15144Genomicunknown
ss1584055539EVA_FINRISK|EVA_FINRISK_rs10246939fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct02/27/1502/27/15144Genomicunknown
ss1594481313EVA_DECODE|EVA_DECODE_7_141319073_1089509_rs10246939fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct03/02/1503/03/15144Genomicunknown
ss1619405460EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_7_141672604_22010219fwd/C/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct03/04/1503/04/15144Genomicunknown
ss1662399493EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_7_141672604_22010219fwd/C/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct03/04/1503/04/15144Genomicunknown
ss1688982263EVA_EXAC|EVA_EXAC_4063449fwd/C/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct03/04/1503/04/15144Genomicunknown
ss1711182651EVA_MGP|EVA_XIMO_298411fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct03/09/1503/09/15144Genomicunknown
ss1712993875EVA_SVP|EVA_SVP_688242fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct03/12/1503/12/15144Genomicunknown
ss1752668331ILLUMINA|OmniExpressExome-8v1-1_B_exm663407-0_B_F_1918444373fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct05/27/1506/09/15146Genomicunknown
ss1752668332ILLUMINA|OmniExpressExome-8v1-1_B_rs10246939-131_B_F_1891272379fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct05/27/1506/09/15146Genomicunknown
ss1805260465HAMMER_LAB|Hsieh_4273918fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct07/15/1507/16/15146Genomicunknown
ss1917823077ILLUMINA|HumanExome-12v1-1_B_exm663407-0_B_F_1918444373fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct10/16/1510/16/15147Genomicunknown
ss1928146601WEILL_CORNELL_DGM|SNV:chr7:141672604fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct10/16/1510/17/15147Genomicunknown
ss1946222869ILLUMINA|HumanCoreExome-12v1-0_C_exm663407-0_B_F_1918444373fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct10/29/1510/29/15147Genomicunknown
ss1946222870ILLUMINA|HumanCoreExome-12v1-0_C_rs10246939-131_B_F_1891272379fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct10/29/1510/29/15147Genomicunknown
ss1959058307ILLUMINA|exm663407-0_B_F_1918444373fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct11/13/1511/13/15147Genomicunknown
ss1959058308ILLUMINA|rs10246939-131_B_F_1891272379fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct11/13/1511/13/15147Genomicunknown
ss1970835829GENOMED|rs10246939fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct02/16/1602/16/16149Genomicunknown
ss2024762740JJLAB|SNP5265295fwd/BC/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct08/29/1608/30/16149Genomicunknown
ss2298591760HUMAN_LONGEVITY|HLI-7-141972804-T-Cfwd/C/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct11/18/1611/18/16150Genomicunknown
ss3026170434BIOINF_KMB_FNS_UNIBA|7.141972804T>Cfwd/C/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct07/05/1707/05/17151Genomicunknown
ss3546734098TOPMED|TOPMed_freeze_5?chr7:141,972,804fwd/C/Taacttggcattgcctgagatcaggaggctgcatgcccagagggacaagct10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10246939|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TTTAACAGTC ATGTTAAAAG CCAAACATAT TATCTTGGGA TTTAGATATT ATTTCAGAAG
 AGATGATTTC TCATGGTTTG ATTTATACCA ATAATAAGCT ATAGTATATA AAGGATTTAC
 ACCAAATACT TAATTATTTT GTTCATTTTA TCAAAACAAA CCTAGGGTAC CAACATTATT
 CTTGCCTAGG CCATGTATAG TGCTTAATTA TTTTATTCAT CTATAAGTGA GTTCATTGAT
 ACAAAGTGGA GAGACTTTCA ATTGTGTTTT ATAGAAGAAA TTGGAAGGCT TTGTGAGGAA
 TCAGAGTTGT ATTCCTGAAG AATCAGAGGC ATATTTATGA AGACTCACAG GCGTATTAAT
 GAAGAGCTCA TTTCATGTCC ATTCTCAGCA CAGTGTCCGG GAATCTGCCT TGTGGTCGGC
 TCTTACCTTC AGGCTGCTCT GAGCCCAGAG CAGAATGGTC ATCACAGCTC TCCTCAACTT
 GGCATTGCCT GAGATCAGGA
 Y
 GGCTGCATGC CCAGAGGGAC AAGCTGCCAT TATCCCAACA CAAACCATCA CCCCTATTTT
 GTCGCGCCAC AGAATCAGTA GGGGCACAGA GATGAAGGCA GCACAGGATG ATATCACAAA
 GAAGCAGAAA AAGGAGACAA GAGACTTGAG GGCTTTAATG TGGGCCTCCA GGCTGGGGTC
 ACGAGAGTTT CTGGTATAGA CCTTCATTGT CCTCATGTGC CTTCCCAGGG AGACAGTCAG
 CATCCCAGAA GAAACCAGAA ACAATAGGAA AGGAGGCACA GACCACAGAT AGCAGAAGAG
 AAAGGAATAA AATAAATTGA GATCTTTAAT CTGCCAGTTG AGCCTTGTAT TGTTATTCAT
 GAATAGCACA GTTGTGACTG TGAAGTGAGG TCTGCTAAAA AAGCACCAAA CACAGAGGAC
 AGTGCAGATG CAGGAGCAAA GAATAATACC CAGGAGCATC TGGGAGATCT TCCTGGAGAC
 CCAGCTTGCC AAGCAGATCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007914 ABBA01034115
dbSNP Blast Analysis
UniGene Cluster ID
553500
OMIM
607751.0003

  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
ss116349053YRI 2IG 1.00000000 0.500000000.50000000
ss1327487471EAS 1008AF 0.676600040.32340002
EUR 1006AF 0.461200000.53880000
AFR 1322AF 0.476599990.52340001
AMR 694AF 0.687300030.31270000
SAS 978AF 0.362000020.63800001
ss143028362ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss162791436CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss165558642YRISub-Saharan African 2IG1.00000000 1.00000000
ss1688982263ExAc_Aggregated_Populations121410AF 0.475776280.52422369
ss198400225BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
ss223376149pilot_1_YRI_low_coverage_panel 118AF 0.432203380.56779659
ss234199692pilot_1_CEU_low_coverage_panel 120AF 0.433333340.56666666
ss241105937pilot_1_CHB+JPT_low_coverage_panel 120AF 0.574999990.42500001
ss24483477AFD_EUR_PANELEuropean 48IG0.291666660.458333340.250000000.751830000.520833310.47916666
AFD_AFR_PANELAfrican American 46IG0.173913050.565217380.260869560.527089000.456521750.54347825
AFD_CHN_PANELAsian 48IG0.500000000.333333340.166666670.250592000.666666690.33333334
ss342248484ESP_Cohort_Populations 4548GF0.215039580.513632360.271328060.150222000.471855760.52814424
ss44794886HapMap-CEUEuropean 226IG0.194690270.477876100.327433621.000000000.433628320.56637168
HapMap-HCBAsian 86IG0.465116290.418604640.116279071.000000000.674418630.32558140
HapMap-JPTAsian 172IG0.325581400.453488380.220930230.479500000.552325610.44767442
HapMap-YRISub-Saharan African 224IG0.205357150.482142870.312500001.000000000.446428570.55357140
AoD_African_American 90AF 0.449999990.55000001
AoD_Caucasian 92AF 0.430000010.56999999
AoD_Chinese 90AF 0.519999980.48000002
AoD_Japanese 90AF 0.340000000.66000003
HAPMAP-ASW 98IG0.306122450.530612230.163265300.583882000.571428600.42857143
HAPMAP-CHBAsian 82IG0.439024390.439024390.121951221.000000000.658536610.34146342
HAPMAP-CHD 170IG0.517647090.411764710.070588241.000000000.723529400.27647060
HAPMAP-GIH 176IG0.170454550.522727250.306818190.583882000.431818190.56818181
HAPMAP-LWK 178IG0.280898870.471910120.247191010.654721000.516853930.48314607
HAPMAP-MEX 100IG0.360000010.440000000.200000000.527089000.579999980.41999999
HAPMAP-MKK 286IG0.265734260.482517480.251748260.751830000.506993000.49300700
HAPMAP-TSI 176IG0.329545470.454545470.215909090.479500000.556818190.44318181
ss491916389CSAgilent 1323GF0.230999990.526000020.243000000.200325000.493999990.50599998
ss98346061J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.499+/-0.0240000ALFRED: 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
UNKNOWNUNKNOWNUNKNOWN

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