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Reference SNP (refSNP) Cluster Report: rs1801280                 ** 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:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:germline
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With drug-response allele [ClinVar]
MAF/MinorAlleleCount:C=0.3846/46561 (ExAC)
C=0.2927/1466 (1000 Genomes)
C=0.3954/5142 (GO-ESP)
C=0.3641/45718 (TOPMED)
HGVS Names
  • CM000670.2:g.18400344T>C
  • NC_000008.10:g.18257854T>C
  • NC_000008.11:g.18400344T>C
  • NG_012246.1:g.14100T>C
  • NM_000015.2:c.341T>C
  • NP_000006.2:p.Ile114Thr
  • XP_016868427.1:p.Ile114Thr
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 ss140403749 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1801280 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
ss2421519HGBASE|SNP000003454fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat11/07/0010/10/0389cDNAunknown
ss5586798SNP500CANCER|NAT2-06byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcratgctgg09/26/0204/07/04113Genomicunknown
ss6311247RIKENSNPRC|ssj0007790fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg01/15/0310/10/03111Genomicunknown
ss23737719PERLEGEN|afd4502789byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg08/10/0409/13/04123Genomicunknown
ss24796683SEQUENOM|sqnm142276byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg06/18/0408/05/04123cDNAunknown
ss43172944ABI|hCV1204093byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg07/18/0511/03/06126Genomicunknown
ss66858968EGP_SNPS|NAT2_010411byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgayggcaggaattacattgtcgatgctgg11/09/0612/16/06127Genomicunknown
ss69042397PERLEGEN|PGP04502789byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg01/30/0708/14/07127Genomicunknown
ss70456614EGP_SNPS|NAT2-010411byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg04/19/0708/14/07127Genomicunknown
ss76869170CGM_KYOTO|11624fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg09/12/0709/12/07129cDNAunknown
ss76888483SI_EXO|NT_030737.9_6102782byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg09/20/0709/05/14129Genomicunknown
ss78455885HGSV|Cor12878_SNV_20070510.chr8_18302134fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg10/17/0710/19/07129Genomicunknown
ss80201180HGSV|Cor18507_SNV_20070510.chr8_18302134fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg11/23/0711/25/07130Genomicunknown
ss84168274PHARMGKB_AB_DME|PS206059_PA147986267_301byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg12/06/0709/05/14130Genomicunknown
ss86238192CORNELL|hCV1204093byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg01/21/0809/05/14129Genomicunknown
ss98055194HUMANGENOME_JCVI|1103652262093fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg03/30/0803/31/08130Genomicunknown
ss99307906SHGC|3130byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg04/17/0809/05/14130Genomicunknown
ss1128808791000GENOMES|CEU.trio.12.15.2008_1943856_chr8_18302134fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg12/18/0812/18/08130Genomicunknown
ss115861053ILLUMINA-UK|NA18507_000042490_NCBI36.1_chr8_18302134fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg01/16/0901/16/09130Genomic99 %
ss120036484ILLUMINA|GS0007123-OPA_Ober-rs1801280fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg02/24/0902/24/09131Genomicunknown
ss140403749OMIM-CURATED-RECORDS|NP_000006.2:p.ILE114THRfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg05/20/0905/22/09131Genomicunknown
ss153736730ILLUMINA|Human610_Quadv1_B_rs1801280-128_T_R_1526884009rev/TA/Gccagcatcgacaatgtaattcctgccgtcatggtcacctgcaggagaaggtgaaccatgc06/18/0906/19/09131Genomicunknown
ss159329810ILLUMINA|Human660W-Quad_v1_A_rs1801280-128_T_R_1526884009rev/TA/Gccagcatcgacaatgtaattcctgccgtcatggtcacctgcaggagaaggtgaaccatgc07/06/0907/07/09131Genomicunknown
ss159716513SEATTLESEQ|NAT2-18302134fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg07/10/0907/10/09131Genomicunknown
ss160463024ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1801280-128_T_R_1526884009rev/TA/Gccagcatcgacaatgtaattcctgccgtcatggtcacctgcaggagaaggtgaaccatgc08/04/0910/02/09131Genomicunknown
ss166321077COMPLETE_GENOMICS|NA20431_36_chr8_18302134fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg09/30/0909/30/09132Genomicunknown
ss172925493ILLUMINA|Human1M-Duov3_B_rs1801280-128_T_R_1526884009rev/TA/Gccagcatcgacaatgtaattcctgccgtcatggtcacctgcaggagaaggtgaaccatgc10/01/0910/02/09132Genomicunknown
ss198867402BUSHMAN|BUSHMAN-chr8-18302133fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg02/16/1003/06/10132Genomicunknown
ss206530835BCM-HGSC-SUB|BCM_CMT_1011-1757043fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg03/15/1003/18/10132Genomicunknown
ss2104782851000GENOMES|YRI.trio.3.2010_783975_chr8_18302134fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg03/29/1003/29/10132Genomicunknown
ss2235763891000GENOMES|pilot_1_YRI_5386072_chr8_18302134fwd/C/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg04/22/1004/22/10132Genomicunknown
ss2343458621000GENOMES|pilot_1_CEU_3950491_chr8_18302134fwd/C/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg05/01/1005/01/10132Genomicunknown
ss244238723OMICIA|2010_April_001_041_NAT2_243400_0002fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg05/27/1005/28/10132Genomicunknown
ss244285128ILLUMINA|CVDSNP55v1_A_rs1801280rev/TA/Gccagcatcgacaatgtaattcctgccgtcatggtcacctgcaggagaaggtgaaccatgc06/10/1006/10/10132Genomicunknown
ss252841661OMIM-CURATED-RECORDS|17214fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg08/12/1008/12/10132Genomicunknown
ss254157061BL|SNP37519_8_18302134fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg08/19/1008/19/10134Genomicunknown
ss279717735GMI|GMI_AK_SNP_4037988fwd/C/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg12/16/1012/16/10137Genomicunknown
ss285804791GMI|GMI_NA10851_SNP_1817564fwd/C/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg12/17/1012/17/10138Genomicunknown
ss294231045PJP|SNP_3737403_chr8_18302134fwd/C/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg01/21/1101/21/11134Genomicunknown
ss342253602NHLBI-ESP|ESP2500-chr8-18257854byFreqfwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg03/25/1109/05/14134Genomicunknown
ss410878052ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr8_18302134fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg06/07/1106/07/11135Genomicunknown
ss480300993ILLUMINA|HumanOmni2.5-4v1_B_rs1801280-128_T_R_1631821334fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat01/30/1210/29/16137Genomicunknown
ss480312107ILLUMINA|HumanOmniExpress-12v1_C_rs1801280-131_T_R_1854056566fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat01/30/1210/27/16137Genomicunknown
ss481067891ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1801280-131_T_R_1865512754fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat01/30/1208/28/15146Genomicunknown
ss484948309ILLUMINA|HumanOmni2.5-4v1_D_rs1801280-131_T_R_1854056566fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat01/30/1210/28/16137Genomicunknown
ss4909607181000GENOMES|20110521_exome_468516_chr8_18257854fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg02/10/1202/21/12137Genomicunknown
ss491410757EXOME_CHIP|nonsyn_126983_chr_8_18257854fwd/BC/Tgcatggttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgatgctgg03/05/1203/05/12137Genomicunknown
ss491921837CLINSEQ_SNP|SNV-chr8-18302134byFreqfwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat03/06/1209/05/14137Genomicunknown
ss536992456ILLUMINA|HumanOmni5-4v1_B_rs1801280-131_T_R_1866539782fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat06/22/1208/29/15146Genomicunknown
ss560588640TISHKOFF|snp_chr8_18257854fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat11/22/1211/23/12138Genomicunknown
ss655024497SSMP|8_18257854fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat12/14/1202/12/15138Genomicunknown
ss778467829ILLUMINA|HumanOmni25Exome-8v1_A_rs1801280-131_T_R_1866539782fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat05/30/1307/10/15146Genomicunknown
ss782920462ILLUMINA|HumanOmni2.5-4v1_H_rs1801280-131_T_R_1854056566fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat05/30/1307/29/15146Genomicunknown
ss783883488ILLUMINA|HumanOmniExpressExome-8v1_A_rs1801280-131_T_R_1967894199fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat05/31/1306/19/15146Genomicunknown
ss832175589ILLUMINA|HumanOmniExpress-12v1_H_rs1801280-131_T_R_1854056566fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat09/17/1306/19/15146Genomicunknown
ss833923588ILLUMINA|HumanOmni2.5-8v1_A_rs1801280-131_T_R_1866539782fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat09/18/1307/29/15146Genomicunknown
ss974467364JMKIDD_LAB|KhoeSan_Exomes_chr8_18257854fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat03/06/1403/06/14142Genomicunknown
ss985256281EVA-GONL|EVA-GONL_rs1801280fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat04/23/1404/25/14142Genomicunknown
ss1067495862JMKIDD_LAB|HGDP_exomes_chr8_18257854fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat07/09/1407/09/14142Genomicunknown
ss1075326284JMKIDD_LAB|HGDP_WGS_chr8_18257854fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat07/10/1407/11/14142Genomicunknown
ss13288538961000GENOMES|PHASE3_V1_41164980fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat08/16/1408/16/14142Genomicunknown
ss1397519433HAMMER_LAB|HAMMER_LAB_rs1801280fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat09/30/1409/30/14146Genomicunknown
ss1431436716DDI|DDI_rs1801280fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat11/04/1411/05/14144Genomicunknown
ss1582586558EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1801280fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat02/19/1502/20/15144Genomicunknown
ss1584057287EVA_FINRISK|EVA_FINRISK_rs1801280fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat02/27/1502/27/15144Genomicunknown
ss1594845136EVA_DECODE|EVA_DECODE_8_18302134_223846_rs1801280fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat03/02/1503/03/15144Genomicunknown
ss1620100536EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18257854_22761466fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat03/04/1503/04/15144Genomicunknown
ss1663094569EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18257854_22761466fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat03/04/1503/04/15144Genomicunknown
ss1689107837EVA_EXAC|EVA_EXAC_4197256fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat03/04/1503/04/15144Genomicunknown
ss1711194412EVA_MGP|EVA_XIMO_310172fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat03/09/1503/09/15144Genomicunknown
ss1752722183ILLUMINA|OmniExpressExome-8v1-1_B_rs1801280-131_T_R_1967894199fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat05/27/1506/09/15146Genomicunknown
ss1928545814WEILL_CORNELL_DGM|SNV:chr8:18257854fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat10/16/1510/17/15147Genomicunknown
ss1959092400ILLUMINA|rs1801280-131_T_R_1967894199fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat11/13/1511/13/15147Genomicunknown
ss1970925399GENOMED|rs1801280fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat02/16/1602/16/16147Genomicunknown
ss2024971337JJLAB|SNP5473892fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat08/29/1608/30/16149Genomicunknown
ss2094832905ILLUMINA|Immuno_BeadChip_11419691_B_rs1801280-131_T_R_1866539782fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat09/27/1609/27/16150Genomicunknown
ss2095209083ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs1801280-131_T_R_1866539782fwd/BC/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat09/27/1609/27/16150Genomicunknown
ss2153192868USC_VALOUEV|NC_000008.10:g.18257854T>Cfwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat11/17/1611/17/16150Genomicunknown
ss2301164541HUMAN_LONGEVITY|HLI-8-18400344-T-Cfwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat11/18/1611/18/16150Genomicunknown
ss2470822136TOPMED|8_18257854_T/Cfwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat11/20/1611/20/16150Genomicunknown
ss2634717901ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs1801280-131_B_F_2131fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat02/02/1702/02/17151Genomicunknown
ss2634717902ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1801280-131_T_R_19678941fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat02/02/1702/02/17151Genomicunknown
ss2708953251GRF|rs1801280fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat02/13/1702/13/17151Genomicunknown
ss2711131668ILLUMINA|Consortium-OncoArray_15047405_A_rs1801280-131_T_R_1967894199fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat03/22/1703/22/17151Genomicunknown
ss2737016660GNOMAD|exomes_rs1801280fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat05/17/1705/17/17151Genomicunknown
ss2748005926GNOMAD|coding_rs1801280fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat05/17/1705/17/17151Genomicunknown
ss2863932584GNOMAD|rs1801280fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat05/19/1705/19/17151Genomicunknown
ss2985432611AFFY|Axiom_PsorMich_Affx-31859117fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat05/24/1705/24/17151Genomicunknown
ss2986074656AFFY|Axiom_Smokesc1_Affx-31859117fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat05/24/1705/24/17151Genomicunknown
ss3002780525SWEGEN|NC_000008.10:g.18257854T>Cfwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat05/30/1705/30/17151Genomicunknown
ss3022824450ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs1801280-138_T_R_2258078292fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat06/28/1706/28/17151Genomicunknown
ss3026276048BIOINF_KMB_FNS_UNIBA|8.18400344T>Cfwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat07/05/1707/05/17151Genomicunknown
ss3029637976CSIRBIOHTS|NM_000015.2:g.18257854T>Cfwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat07/28/1707/28/17151Genomicunknown
ss3348074285CSHL|rs1801280fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat10/02/1710/02/17151Genomicunknown
ss3555514716TOPMED|TOPMed_freeze_5?chr8:18,400,344fwd/C/Tgttcaccttctcctgcaggtgaccatgacggcaggaattacattgtcgat10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1801280|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TGCAGTAGAA ATACTAACAA AAGAATTACT ATGACAGATA CTTATAACCA TTGTGTTTTT
 ACGTATTTAA AATACGTTAT ACCTATAATT AGTCACACGA GGAAATCAAA TGCTAAAGTA
 TGATATGTTT TTATGTTTTG TTTTTCTTGC TTAGGGGATC ATGGACATTG AAGCATATTT
 TGAAAGAATT GGCTATAAGA ACTCTAGGAA CAAATTGGAC TTGGAAACAT TAACTGACAT
 TCTTGAGCAC CAGATCCGGG CTGTTCCCTT TGAGAACCTT AACATGCATT GTGGGCAAGC
 CATGGAGTTG GGCTTAGAGG CTATTTTTGA TCACATTGTA AGAAGAAACC GGGGTGGGTG
 GTGTCTCCAG GTCAATCAAC TTCTGTACTG GGCTCTGACC ACAATCGGTT TTCAGACCAC
 AATGTTAGGA GGGTATTTTT ACATCCCTCC AGTTAACAAA TACAGCACTG GCATGGTTCA
 CCTTCTCCTG CAGGTGACCA
 Y
 TGACGGCAGG AATTACATTG TCGATGCTGG GTCTGGAAGC TCCTCCCAGA TGTGGCAGCC
 TCTAGAATTA ATTTCTGGGA AGGATCAGCC TCAGGTGCCT TGCATTTTCT GCTTGACAGA
 AGAGAGAGGA ATCTGGTACC TGGACCAAAT CAGGAGAGAG CAGTATATTA CAAACAAAGA
 ATTTCTTAAT TCTCATCTCC TGCCAAAGAA GAAACACCAA AAAATATACT TATTTACGCT
 TGAACCTCGA ACAATTGAAG ATTTTGAGTC TATGAATACA TACCTGCAGA CGTCTCCAAC
 ATCTTCATTT ATAACCACAT CATTTTGTTC CTTGCAGACC CCAGAAGGGG TTTACTGTTT
 GGTGGGCTTC ATCCTCACCT ATAGAAAATT CAATTATAAA GACAATACAG ATCTGGTCGA
 GTTTAAAACT CTCACTGAGG AAGAGGTTGA AGAAGTGCTG AGAAATATAT TTAAGATTTC
 CTTGGGGAGA AATCTCGTGC

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
sqnm142276 X14672 ABBA01021573
dbSNP Blast Analysis
UniGene Cluster ID
2
3D structure mapping
NP_000006  
OMIM
612182.0002
243400.0002

  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
ss115861053YRI 2IG 1.00000000 0.500000000.50000000
ss1328853896EAS 1008AF 0.037700000.96230000
EUR 1006AF 0.449299990.55070001
AFR 1322AF 0.292000000.70800000
AMR 694AF 0.361700000.63830000
SAS 978AF 0.346600000.65340000
ss140403749ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss166321077PGP 2IG 1.00000000 0.500000000.50000000
ss1689107837ExAc_Aggregated_Populations121412AF 0.384014760.61598521
ss198867402BANTU 2IG 1.00000000 0.500000000.50000000
ss223576389pilot_1_YRI_low_coverage_panel 118AF 0.211864410.78813559
ss234345862pilot_1_CEU_low_coverage_panel 120AF 0.433333340.56666666
ss23737719AFD_EUR_PANELEuropean 42IG 0.523809550.476190480.273322000.261904780.73809522
AFD_AFR_PANELAfrican American 42IG 0.571428600.428571430.200325000.285714300.71428573
AFD_CHN_PANELAsian 48IG 0.125000000.875000001.000000000.062500000.93750000
ss24796683CEPH 184AF 0.479999990.51999998
ss342253602ESP_Cohort_Populations 4540GF0.155066070.476211460.368722471.000000000.393171820.60682821
ss43172944AoD_African_American 90AF 0.319999990.68000001
AoD_Caucasian 92AF 0.460000010.54000002
Brazilian Population 620AF0.140000000.259999990.600000020.001000000.259999990.74000001
ss491921837CSAgilent 1298GF0.209790190.520479500.269730270.273322000.470029950.52997005
ss5586798P1 202AF0.128999990.375999990.494999970.200325000.316999970.68300003
CAUC1 62AF0.161000000.547999980.291000010.527089000.435000000.56500000
AFR1 48AF0.083000000.375000000.542000001.000000000.271000000.72899997
HISP1 46AF0.217000010.435000000.347999990.583882000.435000000.56500000
PAC1 46AF0.043000000.087000000.870000000.050043000.087000000.91300005
ss66858968HSP_GENO_PANEL 120IG0.183333340.433333340.383333330.479500000.400000010.60000002
CEU_GENO_PANELEuropean 120IG0.183333340.516666650.300000010.751830000.441666660.55833334
AAM_GENO_PANELAfrican American 120IG0.100000000.300000010.600000020.150222000.250000000.75000000
CHB_GENO_PANELAsian 86IG 0.046511630.953488351.000000000.023255810.97674417
YRI_GENO_PANELSub-Saharan African 120IG0.133333340.300000010.566666660.050043000.283333330.71666664
JPT_GENO_PANELAsian 88IG 0.068181820.931818191.000000000.034090910.96590906
ss69042397HapMap-CEUEuropean 120IG0.183333340.516666650.300000010.751830000.441666660.55833334
HapMap-HCBAsian 90IG 0.044444450.955555561.000000000.022222220.97777778
HapMap-JPTAsian 90IG 0.088888890.911111121.000000000.044444450.95555556
HapMap-YRISub-Saharan African 120IG0.133333340.300000010.566666660.050043000.283333330.71666664
ss70456614PDR90-PANEL 180AF 0.305555550.69444442
ss76888483HapMap-CEUEuropean 120IG0.183333340.516666650.300000010.751830000.441666660.55833334
HapMap-HCBAsian 90IG 0.044444450.955555561.000000000.022222220.97777778
HapMap-JPTAsian 88IG 0.068181820.931818191.000000000.034090910.96590906
HapMap-YRISub-Saharan African 120IG0.133333340.300000010.566666660.050043000.283333330.71666664
ss84168274PA147986268 356AF 0.202247190.79775280
ss86238192AGI_ASP_populationmultiple 60IG0.233333330.266666680.500000000.020022000.366666670.63333333
ss98055194J. Craig Venter 2IG 1.00000000 0.500000000.50000000
ss99307906P24 48AF 0.460000010.54000002

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.473+/-0.1120000ALFRED: 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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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