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Reference SNP (refSNP) Cluster Report: rs1726866                 ** With drug-response allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With drug-response allele [ClinVar]
MAF/MinorAlleleCount:G=0.4925/59719 (ExAC)
A=0.4255/2131 (1000 Genomes)
A=0.4757/6187 (GO-ESP)
A=0.4507/56588 (TOPMED)
HGVS Names
  • CM000669.2:g.141972905G>A
  • NC_000007.13:g.141672705G=
  • NC_000007.13:g.141672705G>A
  • NC_000007.14:g.141972905G=
  • NC_000007.14:g.141972905G>A
  • NG_016141.1:g.5869T=
  • NG_016141.1:g.5869T>C
  • NM_176817.4:c.785T=
  • NM_176817.4:c.785T>C
  • NP_789787.4:p.Val262=
  • NP_789787.4:p.Val262Ala
  • NW_003571040.1:g.114856G=
  • NW_003571040.1:g.114856G>A
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 ss279562744 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1726866 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
ss2566278SC_JCM|AC073647.3_68936byFreqfwd/BC/Tttttctgcttctttgtgatatcatcctgtgtgccttcatctctgtgcccctactgattct11/03/0004/07/0489Genomicunknown
ss20314548CSHL-HAPMAP|CSHL-HuFF-200402.chr7.NT_007914.13_2264257rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa02/21/0403/04/04120Genomicunknown
ss22535374SSAHASNP|WGSA-200403-chr7.chr7.NT_007914.13_2264257rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa03/21/0403/21/04121Genomicunknown
ss22910119SSAHASNP|AACC-200403.chr7.NT_007914.13_2264257rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa03/22/0403/22/04121Genomicunknown
ss24483486PERLEGEN|afd1590233byFreqrev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa08/10/0409/13/04123Genomicunknown
ss44833492ABI|hCV9506827byFreqrev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa07/19/0511/03/06126Genomicunknown
ss66541907ILLUMINA|HumanHap300v1.1_rs1726866fwd/BC/Tttttctgcttctttgtgatatcatcctgtgtgccttcatctctgtgcccctactgattct11/09/0611/09/06127Genomicunknown
ss67182608ILLUMINA|HumanHap550v1.1_rs1726866fwd/BC/Tttttctgcttctttgtgatatcatcctgtgtgccttcatctctgtgcccctactgattct11/14/0611/14/06127Genomicunknown
ss67552509ILLUMINA|HumanHap650Yv1.0_rs1726866fwd/BC/Tttttctgcttctttgtgatatcatcctgtgtgccttcatctctgtgcccctactgattct11/14/0611/14/06127Genomicunknown
ss69030483PERLEGEN|PGP01590233byFreqrev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa01/30/0708/14/07127Genomicunknown
ss70451825ILLUMINA|HumanHap300v2.0_rs1726866fwd/BC/Tttttctgcttctttgtgatatcatcctgtgtgccttcatctctgtgcccctactgattct04/18/0711/18/07127Genomicunknown
ss70660649ILLUMINA|HumanHap550v3.0__rs1726866rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa04/20/0703/30/08130Genomicunknown
ss71221792ILLUMINA|HumanHap650Yv3.0_rs1726866fwd/BC/Tttttctgcttctttgtgatatcatcctgtgtgccttcatctctgtgcccctactgattct04/23/0704/23/07127Genomicunknown
ss75808568ILLUMINA|ILMN_Human_1M_rs1726866fwd/BC/Tttttctgcttctttgtgatatcatcctgtgtgccttcatctctgtgcccctactgattct08/28/0708/29/07129Genomicunknown
ss83234507HGSV|Cor18956_SNV_20070510.chr7_141125889rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa11/30/0712/04/07130Genomicunknown
ss83866477KRIBB_YJKIM|KHS560660fwd/BC/Tttttctgcttctttgtgatatcatcctgtgtgccttcatctctgtgcccctactgattct12/04/0712/05/07130Genomicunknown
ss85367227HGSV|Cor19129_SNV_20070510.chr7_141125889rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa12/06/0712/09/07130Genomicunknown
ss93779281BCMHGSC_JDW|JWB-2384066rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa02/26/0803/05/08129Genomicunknown
ss98346062HUMANGENOME_JCVI|1103652723419rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa03/31/0803/31/08130Genomicunknown
ss1125932921000GENOMES|CEU.trio.12.15.2008_1870299_chr7_141319174rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa12/17/0812/17/08130Genomicunknown
ss121792468ILLUMINA|HumanCNV370v1_C_rs1726866fwd/BC/Tttttctgcttctttgtgatatcatcctgtgtgccttcatctctgtgcccctactgattct04/14/0904/14/09131Genomicunknown
ss142707133ENSEMBL|ENSSNP4705868rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa12/08/0810/16/09131Genomicunknown
ss143028371ENSEMBL|ENSSNP6062625rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa06/05/0906/05/09131Genomicunknown
ss153659061ILLUMINA|Human610_Quadv1_B_rs1726866-128_T_R_1501680066rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa06/18/0906/19/09131Genomicunknown
ss155604570GMI|GMI_SNP_109381364rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa06/24/0906/24/09131Genomicunknown
ss159314607ILLUMINA|Human660W-Quad_v1_A_rs1726866-128_T_R_1501680066rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa07/06/0907/06/09131Genomicunknown
ss159715887SEATTLESEQ|TAS2R38-141319174rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa07/10/0907/10/09131Genomicunknown
ss160437420ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1726866-128_T_R_1501680066rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa08/04/0910/02/09131Genomicunknown
ss162791444COMPLETE_GENOMICS|NA07022_36_chr7_141319174rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa09/28/0909/29/09132Genomicunknown
ss167200048COMPLETE_GENOMICS|NA20431_36_chr7_141319174rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa09/30/0909/30/09132Genomicunknown
ss170769401ILLUMINA|HumanCNV370-Quadv3_C_rs1726866-128_T_R_1501680066rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa10/01/0910/03/09132Genomicunknown
ss172798418ILLUMINA|Human1M-Duov3_B_rs1726866-128_T_R_1501680066rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa10/01/0910/02/09132Genomicunknown
ss198400230BUSHMAN|BUSHMAN-chr7-141319173rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa02/16/1003/06/10132Genomicunknown
ss2233761511000GENOMES|pilot_1_YRI_5185834_chr7_141319174rev/A/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa04/22/1004/22/10132Genomicunknown
ss2341996931000GENOMES|pilot_1_CEU_3804322_chr7_141319174rev/A/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa05/01/1005/01/10132Genomicunknown
ss2411059381000GENOMES|pilot_1_CHB+JPT_2991015_chr7_141319174rev/A/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa05/01/1005/01/10132Genomicunknown
ss244283342ILLUMINA|CVDSNP55v1_A_rs1726866rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa06/10/1006/10/10132Genomicunknown
ss254726580BL|SNP154309_7_141319174rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa08/19/1008/19/10134Genomicunknown
ss275516293OMICIA|2010_April_001_100_TAS2R38_607751_0002rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa11/30/1008/29/12137Genomicunknown
ss279562744GMI|GMI_AK_SNP_3882991rev/A/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa12/16/1012/16/10137Genomicunknown
ss290489993OMIM-CURATED-RECORDS|15177fwd/BC/Tttttctgcttctttgtgatatcatcctgtgtgccttcatctctgtgcccctactgattct01/19/1101/19/11133Genomicunknown
ss293981218PJP|SNP_3487576_chr7_141319174rev/A/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa01/21/1101/21/11134Genomicunknown
ss342248488NHLBI-ESP|ESP2500-chr7-141672705byFreqrev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa03/25/1109/05/14134Genomicunknown
ss480221234ILLUMINA|HumanOmni2.5-4v1_B_rs1726866-128_T_R_1616886950rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca01/30/1210/29/16137Genomicunknown
ss480231829ILLUMINA|HumanOmniExpress-12v1_C_rs1726866-131_T_R_1856953414rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca01/30/1210/27/16137Genomicunknown
ss480965868ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1726866-131_T_R_1865565023rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca01/30/1208/28/15146Genomicunknown
ss484908632ILLUMINA|HumanOmni2.5-4v1_D_rs1726866-131_T_R_1856953414rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca01/30/1210/28/16137Genomicunknown
ss4909558741000GENOMES|20110521_exome_463672_chr7_141672705rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa02/10/1202/21/12137Genomicunknown
ss491406760EXOME_CHIP|nonsyn_122986_chr_7_141672705rev/TA/Gagaatcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagcagaaaa03/05/1203/05/12137Genomicunknown
ss491916391CLINSEQ_SNP|SNV-chr7-141319174byFreqrev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca03/06/1209/05/14137Genomicunknown
ss536961543ILLUMINA|HumanOmni5-4v1_B_rs1726866-131_T_R_1888146551rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca06/22/1208/29/15146Genomicunknown
ss560356336TISHKOFF|snp_chr7_141672705rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca11/22/1211/23/12138Genomicunknown
ss654769279SSMP|7_141672705rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca12/14/1202/11/15138Genomicunknown
ss778833076ILLUMINA|HumanOmni25Exome-8v1_A_rs1726866-131_T_R_1865565023rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca05/30/1307/10/15146Genomicunknown
ss780865069ILLUMINA|HumanOmni25Exome-8v1_A_exm663414-0_T_F_1918504279rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca05/30/1307/10/15146Genomicunknown
ss782900620ILLUMINA|HumanOmni2.5-4v1_H_rs1726866-131_T_R_1856953414rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca05/30/1307/29/15142Genomicunknown
ss783549710ILLUMINA|HumanOmniExpressExome-8v1_A_exm663414-0_T_F_1918504279rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca05/31/1306/19/15146Genomicunknown
ss783863976ILLUMINA|HumanOmniExpressExome-8v1_A_rs1726866-131_T_R_1888146551rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca05/31/1306/19/15146Genomicunknown
ss825420558ILLUMINA|HumanCNV370v1_C_rs1726866-126_T_R_IFB1136456405:0rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca06/24/1311/21/14144Genomicunknown
ss832155416ILLUMINA|HumanOmniExpress-12v1_H_rs1726866-131_T_R_1856953414rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca09/17/1306/19/15144Genomicunknown
ss832826655ILLUMINA|Human660W-Quad_v1_C_rs1726866-131_T_R_1856953414rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca09/18/1307/02/15142Genomicunknown
ss833417485ILLUMINA|Human660W-Quad_v1_H_rs1726866-131_T_R_1856953414rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca09/18/1307/02/15142Genomicunknown
ss834293543ILLUMINA|HumanOmni2.5-8v1_A_rs1726866-131_T_R_1865565023rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca09/18/1307/29/15146Genomicunknown
ss974466191JMKIDD_LAB|KhoeSan_Exomes_chr7_141672705rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca03/06/1403/06/14142Genomicunknown
ss984891380EVA-GONL|EVA-GONL_rs1726866rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca04/23/1404/24/14142Genomicunknown
ss1067492958JMKIDD_LAB|HGDP_exomes_chr7_141672705rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca07/09/1407/09/14142Genomicunknown
ss1075049387JMKIDD_LAB|HGDP_WGS_chr7_141672705rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca07/10/1407/11/14142Genomicunknown
ss13274874771000GENOMES|PHASE3_V1_39752720rev/A/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca08/16/1408/16/14142Genomicunknown
ss1397508450HAMMER_LAB|HAMMER_LAB_rs1726866rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca09/30/1407/15/15146Genomicunknown
ss1431305166DDI|DDI_rs1726866rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca11/04/1411/05/14144Genomicunknown
ss1582436479EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1726866rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca02/19/1502/20/15144Genomicunknown
ss1584055540EVA_FINRISK|EVA_FINRISK_rs1726866rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca02/27/1502/27/15144Genomicunknown
ss1594481314EVA_DECODE|EVA_DECODE_7_141319174_1089510_rs1726866rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca03/02/1503/03/15144Genomicunknown
ss1619405464EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_7_141672705_22010223rev/A/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca03/04/1503/04/15144Genomicunknown
ss1662399497EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_7_141672705_22010223rev/A/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca03/04/1503/04/15144Genomicunknown
ss1688982287EVA_EXAC|EVA_EXAC_4063474rev/A/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca03/04/1503/04/15144Genomicunknown
ss1711182652EVA_MGP|EVA_XIMO_298412rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca03/09/1503/09/15144Genomicunknown
ss1712993876EVA_SVP|EVA_SVP_688243rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca03/12/1503/12/15144Genomicunknown
ss1752668335ILLUMINA|OmniExpressExome-8v1-1_B_exm663414-0_T_F_1918504279rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca05/27/1506/09/15146Genomicunknown
ss1752668336ILLUMINA|OmniExpressExome-8v1-1_B_rs1726866-131_T_R_1888146551rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca05/27/1506/09/15146Genomicunknown
ss1805260466HAMMER_LAB|Hsieh_4273919rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca07/15/1507/16/15146Genomicunknown
ss1917823080ILLUMINA|HumanExome-12v1-1_B_exm663414-0_T_F_1918504279rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca10/16/1510/16/15147Genomicunknown
ss1928146602WEILL_CORNELL_DGM|SNV:chr7:141672705rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca10/16/1510/17/15147Genomicunknown
ss1946222873ILLUMINA|HumanCoreExome-12v1-0_C_exm663414-0_T_F_1918504279rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca10/29/1510/29/15147Genomicunknown
ss1959058316ILLUMINA|exm663414-0_T_F_1918504279rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca11/13/1511/13/15147Genomicunknown
ss2024762741JJLAB|SNP5265296rev/TA/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca08/29/1608/30/16149Genomicunknown
ss2298591772HUMAN_LONGEVITY|HLI-7-141972905-G-Arev/A/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca11/18/1611/18/16150Genomicunknown
ss3026170435BIOINF_KMB_FNS_UNIBA|7.141972905G>Arev/A/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca07/05/1707/05/17151Genomicunknown
ss3546734119TOPMED|TOPMed_freeze_5?chr7:141,972,905rev/A/Gcagtaggggcacagagatgaaggcacacaggatgatatcacaaagaagca10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1726866|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CATCATGCTA TGGATGATTG CAAACCAAGC CAACCTCTGG CTTGCTGCCT GCCTCAGCCT
 GCTTTACTGC TCCAAGCTCA TCCGTTTCTC TCACACCTTC CTGATCTGCT TGGCAAGCTG
 GGTCTCCAGG AAGATCTCCC AGATGCTCCT GGGTATTATT CTTTGCTCCT GCATCTGCAC
 TGTCCTCTGT GTTTGGTGCT TTTTTAGCAG ACCTCACTTC ACAGTCACAA CTGTGCTATT
 CATGAATAAC AATACAAGGC TCAACTGGCA GATTAAAGAT CTCAATTTAT TTTATTCCTT
 TCTCTTCTGC TATCTGTGGT CTGTGCCTCC TTTCCTATTG TTTCTGGTTT CTTCTGGGAT
 GCTGACTGTC TCCCTGGGAA GGCACATGAG GACAATGAAG GTCTATACCA GAAACTCTCG
 TGACCCCAGC CTGGAGGCCC ACATTAAAGC CCTCAAGTCT CTTGTCTCCT TTTTCTGCTT
 CTTTGTGATA TCATCCTGTG
 Y
 TGCCTTCATC TCTGTGCCCC TACTGATTCT GTGGCGCGAC AAAATAGGGG TGATGGTTTG
 TGTTGGGATA ATGGCAGCTT GTCCCTCTGG GCATGCAGCC ATCCTGATCT CAGGCAATGC
 CAAGTTGAGG AGAGCTGTGA TGACCATTCT GCTCTGGGCT CAGAGCAGCC TGAAGGTAAG
 AGCCGACCAC AAGGCAGATT CCCGGACACT GTGCTGAGAA TGGACATGAA ATGAGCTCTT
 CATTAATACG CCTGTGAGTC TTCATAAATA TGCCTCTGAT TCTTCAGGAA TACAACTCTG
 ATTCCTCACA AAGCCTTCCA ATTTCTTCTA TAAAACACAA TTGAAAGTCT CTCCACTTTG
 TATCAATGAA CTCACTTATA GATGAATAAA ATAATTAAGC ACTATACATG GCCTAGGCAA
 GAATAATGTT GGTACCCTAG GTTTGTTTTG ATAAAATGAA CAAAATAATT AAGTATTTGG
 TGTAAATCCT TTATATACTA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007914 ABBA01034115 AC011654
dbSNP Blast Analysis
UniGene Cluster ID
553500
OMIM
607751.0002

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1726866 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC
C/C
C/T
T
T/T
HWPC
T
ss1327487477EAS 1008AF 0.675599990.32440001
EUR 1006AF 0.461200000.53880000
AFR 1322AF 0.667199970.33280000
AMR 694AF 0.714699980.28529999
SAS 978AF 0.362000020.63800001
ss142707133ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss143028371ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss162791444CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss167200048PGP 2IG 1.00000000 1.00000000
ss1688982287ExAc_Aggregated_Populations121408AF 0.492974100.50702590
ss223376151pilot_1_YRI_low_coverage_panel 118AF 0.686440710.31355932
ss234199693pilot_1_CEU_low_coverage_panel 120AF 0.433333340.56666666
ss241105938pilot_1_CHB+JPT_low_coverage_panel 120AF 0.574999990.42500001
ss24483486AFD_EUR_PANELEuropean 48IG 0.291666660.45833334 0.250000000.751830000.520833310.47916666
AFD_AFR_PANELAfrican American 42IG 0.285714300.57142860 0.142857150.479500000.571428600.42857143
AFD_CHN_PANELAsian 48IG 0.500000000.33333334 0.166666670.250592000.666666690.33333334
ss2566278CEPH 184AF 0.349999990.64999998
CHMJAsian 74IG0.50000000 0.50000000 0.500000000.50000000
ss342248488ESP_Cohort_Populations 4552GF 0.300527240.48286468 0.216608080.200325000.541959580.45804042
ss44833492HapMap-CEUEuropean 226IG 0.194690270.46902654 0.336283180.654721000.429203540.57079649
HapMap-HCBAsian 86IG 0.465116290.41860464 0.116279071.000000000.674418630.32558140
HapMap-JPTAsian 172IG 0.325581400.45348838 0.220930230.479500000.552325610.44767442
HapMap-YRISub-Saharan African 224IG 0.446428570.47321430 0.080357140.342782000.683035730.31696430
HAPMAP-ASW 98IG 0.448979590.48979592 0.061224490.294266000.693877580.30612245
HAPMAP-CHBAsian 82IG 0.439024390.43902439 0.121951221.000000000.658536610.34146342
HAPMAP-CHD 170IG 0.517647090.41176471 0.070588241.000000000.723529400.27647060
HAPMAP-GIH 176IG 0.170454550.52272725 0.306818190.583882000.431818190.56818181
HAPMAP-LWK 180IG 0.477777780.43333334 0.088888891.000000000.694444420.30555555
HAPMAP-MEX 100IG 0.380000000.44000000 0.180000010.583882000.600000020.40000001
HAPMAP-MKK 286IG 0.398601410.49650350 0.104895110.317310000.646853150.35314685
HAPMAP-TSI 176IG 0.329545470.45454547 0.215909090.479500000.556818190.44318181
ss491916391CSAgilent 1320GF 0.234234230.52352351 0.242242260.250592000.495996000.50400400
ss69030483HapMap-CEUEuropean 120IG 0.250000000.50000000 0.25000000 0.500000000.50000000
HapMap-HCBAsian 90IG 0.488888890.40000001 0.111111110.654721000.688888910.31111112
HapMap-JPTAsian 90IG 0.288888900.51111114 0.200000001.000000000.544444440.45555556
HapMap-YRISub-Saharan African 120IG 0.449999990.43333334 0.116666671.000000000.666666690.33333334
ss98346062J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.500+/-0.0070000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: ILLUMINA
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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