NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs1799931                 ** 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: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=0.0553/6140 (ExAC)
A=0.0773/387 (1000 Genomes)
A=0.0229/296 (GO-ESP)
A=0.0434/5447 (TOPMED)
HGVS Names
  • CM000670.2:g.18400860G>A
  • NC_000008.10:g.18258370G>A
  • NC_000008.11:g.18400860G>A
  • NG_012246.1:g.14616G>A
  • NM_000015.2:c.857G>A
  • NP_000006.2:p.Gly286Glu
  • XP_016868427.1:p.Gly286Glu
Links
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 ss140403753 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1799931 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
ss2419982HGBASE|SNP000002399fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa11/07/0010/10/0389Genomicunknown
ss5586794SNP500CANCER|NAT2-02byFreqfwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa09/26/0204/07/04116Genomicunknown
ss6311251RIKENSNPRC|ssj0007794fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa01/15/0310/10/03113Genomicunknown
ss24180357PERLEGEN|afd1876300byFreqfwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa08/10/0409/13/04123Genomicunknown
ss65725860ILLUMINA|Human1-rs1799931fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa10/10/0610/10/06127Genomicunknown
ss66858971EGP_SNPS|NAT2_010927byFreqfwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa11/09/0612/16/06127Genomicunknown
ss69042401PERLEGEN|PGP01876300byFreqfwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa01/30/0708/14/07127Genomicunknown
ss70456622EGP_SNPS|NAT2-010927byFreqfwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa04/19/0708/14/07127Genomicunknown
ss74810437AFFY|SNP_M-183828fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa08/09/0708/09/07128Genomicunknown
ss74877977ILLUMINA|ILMN_Human_1M_rs1799931fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa08/28/0708/29/07129Genomicunknown
ss76869177CGM_KYOTO|11631fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa09/12/0709/12/07129cDNAunknown
ss84168281PHARMGKB_AB_DME|PS206059_PA147989477_301byFreqfwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa12/06/0709/05/14130Genomicunknown
ss86271256CORNELL|hCV572770fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa01/21/0809/29/10129Genomicunknown
ss99307911SHGC|3135byFreqfwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa04/17/0809/05/14130Genomicunknown
ss104510604BGI|BGI_rs1799931fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa06/08/0806/18/09131Genomicunknown
ss140403753OMIM-CURATED-RECORDS|NP_000006.2:p.GLY286GLUfwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa05/20/0905/22/09131Genomicunknown
ss153736160ILLUMINA|Human610_Quadv1_B_rs1799931-127_T_F_1513892774fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa06/18/0906/19/09131Genomicunknown
ss159329701ILLUMINA|Human660W-Quad_v1_A_rs1799931-127_T_F_1513892774fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa07/06/0907/07/09131Genomicunknown
ss160462715ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1799931-128_T_F_1561719679fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa08/04/0910/02/09131Genomicunknown
ss172924252ILLUMINA|Human1M-Duov3_B_rs1799931-127_T_F_1513892774fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa10/01/0910/02/09132Genomicunknown
ss2235763961000GENOMES|pilot_1_YRI_5386079_chr8_18302650fwd/A/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa04/22/1004/22/10132Genomicunknown
ss2343458661000GENOMES|pilot_1_CEU_3950495_chr8_18302650fwd/A/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa05/01/1005/01/10132Genomicunknown
ss2412218361000GENOMES|pilot_1_CHB+JPT_3106913_chr8_18302650fwd/A/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa05/01/1005/01/10132Genomicunknown
ss244284961ILLUMINA|CVDSNP55v1_A_rs1799931fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa06/10/1006/10/10132Genomicunknown
ss252841663OMIM-CURATED-RECORDS|17216fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa08/12/1008/12/10132Genomicunknown
ss342253628NHLBI-ESP|ESP2500-chr8-18258370byFreqfwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa03/25/1109/05/14134Genomicunknown
ss410878059ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr8_18302650fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa06/07/1106/07/11135Genomicunknown
ss475721562GMI|GMI_AK_SNP_8390060fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa12/16/1011/23/11137Genomicunknown
ss480300122ILLUMINA|HumanOmni2.5-4v1_B_rs1799931-128_T_F_1616871416fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa01/30/1210/29/16137Genomicunknown
ss480311212ILLUMINA|HumanOmniExpress-12v1_C_rs1799931-131_T_F_1857012341fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa01/30/1210/27/16137Genomicunknown
ss481066655ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1799931-131_T_F_1865119195fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa01/30/1208/28/15146Genomicunknown
ss482104901ILLUMINA|HumanOmni2.5-4v1_D_kgp20239798-0_B_R_1835123544fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa01/30/1210/28/16137Genomicunknown
ss484947872ILLUMINA|HumanOmni2.5-4v1_D_rs1799931-131_T_F_1857012341fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa01/30/1210/28/16137Genomicunknown
ss485580728ILLUMINA|HumanOmni2.5-4v1_B_SNP8-18302650-0_B_R_1616625936fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa01/30/1210/29/16137Genomicunknown
ss4909607321000GENOMES|20110521_exome_468530_chr8_18258370fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa02/10/1202/21/12137Genomicunknown
ss491410773EXOME_CHIP|nonsyn_126999_chr_8_18258370fwd/TA/Gggagaaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaacaaaa03/05/1203/05/12137Genomicunknown
ss491921845CLINSEQ_SNP|SNV-chr8-18302650byFreqfwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa03/06/1209/05/14137Genomicunknown
ss536992204ILLUMINA|HumanOmni5-4v1_B_rs1799931-131_T_F_1885767283fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa06/22/1208/29/15146Genomicunknown
ss655024501SSMP|8_18258370fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa12/14/1202/12/15138Genomicunknown
ss778841466ILLUMINA|HumanOmni25Exome-8v1_A_rs1799931-131_T_F_1865119195fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/30/1307/10/15146Genomicunknown
ss779115106ILLUMINA|HumanOmni25Exome-8v1_A_kgp20239798-0_B_R_1835123544fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/30/1307/10/15146Genomicunknown
ss780867837ILLUMINA|HumanOmni25Exome-8v1_A_exm685705-0_T_F_1923009289fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/30/1307/10/15146Genomicunknown
ss781650656ILLUMINA|HumanOmni2.5-4v1_H_kgp20239798-0_B_R_1835123544fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/30/1307/29/15146Genomicunknown
ss782920244ILLUMINA|HumanOmni2.5-4v1_H_rs1799931-131_T_F_1857012341fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/30/1307/29/15146Genomicunknown
ss783552768ILLUMINA|HumanOmniExpressExome-8v1_A_exm685705-0_T_F_1923009289fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/31/1306/19/15146Genomicunknown
ss783883285ILLUMINA|HumanOmniExpressExome-8v1_A_rs1799931-131_T_F_1885767283fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/31/1306/19/15146Genomicunknown
ss832175366ILLUMINA|HumanOmniExpress-12v1_H_rs1799931-131_T_F_1857012341fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa09/17/1306/19/15146Genomicunknown
ss834302023ILLUMINA|HumanOmni2.5-8v1_A_rs1799931-131_T_F_1865119195fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa09/18/1307/29/15146Genomicunknown
ss834579360ILLUMINA|HumanOmni2.5-8v1_A_kgp20239798-0_B_R_1835123544fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa09/18/1307/29/15146Genomicunknown
ss974467368JMKIDD_LAB|KhoeSan_Exomes_chr8_18258370fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa03/06/1403/06/14142Genomicunknown
ss985256290EVA-GONL|EVA-GONL_rs1799931fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa04/23/1404/25/14142Genomicunknown
ss1067495867JMKIDD_LAB|HGDP_exomes_chr8_18258370fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa07/09/1407/09/14142Genomicunknown
ss1075326289JMKIDD_LAB|HGDP_WGS_chr8_18258370fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa07/10/1407/11/14142Genomicunknown
ss13288539271000GENOMES|PHASE3_V1_41165011fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa08/16/1408/16/14142Genomicunknown
ss1397519434HAMMER_LAB|HAMMER_LAB_rs1799931fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa09/30/1409/30/14146Genomicunknown
ss1431436720DDI|DDI_rs1799931fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa11/04/1411/05/14144Genomicunknown
ss1582586563EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1799931fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa02/19/1502/20/15144Genomicunknown
ss1584057292EVA_FINRISK|EVA_FINRISK_rs1799931fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa02/27/1502/27/15144Genomicunknown
ss1594845143EVA_DECODE|EVA_DECODE_8_18302650_223853_rs1799931fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa03/02/1503/03/15144Genomicunknown
ss1620100550EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18258370_22761480fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa03/04/1503/04/15144Genomicunknown
ss1663094583EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18258370_22761480fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa03/04/1503/04/15144Genomicunknown
ss1689107952EVA_EXAC|EVA_EXAC_4197374fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa03/04/1503/04/15144Genomicunknown
ss1711194417EVA_MGP|EVA_XIMO_310177fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa03/09/1503/09/15144Genomicunknown
ss1713019603EVA_SVP|EVA_SVP_713970fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa03/12/1503/12/15144Genomicunknown
ss1752722197ILLUMINA|OmniExpressExome-8v1-1_B_rs1799931-131_T_F_1885767283fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/27/1506/09/15146Genomicunknown
ss1928545821WEILL_CORNELL_DGM|SNV:chr8:18258370fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa10/16/1510/17/15147Genomicunknown
ss1946231125ILLUMINA|HumanCoreExome-12v1-0_C_exm685705-0_T_F_1923009289fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa10/29/1510/29/15147Genomicunknown
ss1959092426ILLUMINA|exm685705-0_T_F_1923009289fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa11/13/1511/13/15147Genomicunknown
ss1970925403GENOMED|rs1799931fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa02/16/1602/16/16147Genomicunknown
ss2024971343JJLAB|SNP5473898fwd/TA/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa08/29/1608/30/16149Genomicunknown
ss2153192872USC_VALOUEV|NC_000008.10:g.18258370G>Afwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa11/17/1611/17/16150Genomicunknown
ss2301164585HUMAN_LONGEVITY|HLI-8-18400860-G-Afwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa11/18/1611/18/16150Genomicunknown
ss2470822184TOPMED|8_18258370_G/Afwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa11/20/1611/20/16150Genomicunknown
ss2626970491SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3490746fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa01/06/1701/06/17151Genomicunknown
ss2634717921ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_exm685705-0_T_F_1923009289fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa02/02/1702/02/17151Genomicunknown
ss2634717922ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp20239798-0_B_R_18351235fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa02/02/1702/02/17151Genomicunknown
ss2634717923ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1799931-131_T_F_18857672fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa02/02/1702/02/17151Genomicunknown
ss2708953255GRF|rs1799931fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa02/13/1702/13/17151Genomicunknown
ss2711131684ILLUMINA|Consortium-OncoArray_15047405_A_exm685705-0_T_F_1923009289fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa03/22/1703/22/17151Genomicunknown
ss2737016815GNOMAD|exomes_rs1799931fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/17/1705/17/17151Genomicunknown
ss2748005978GNOMAD|coding_rs1799931fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/17/1705/17/17151Genomicunknown
ss2863932636GNOMAD|rs1799931fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/19/1705/19/17151Genomicunknown
ss2985432625AFFY|Axiom_PsorMich_Affx-31859138fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/24/1705/24/17151Genomicunknown
ss2986074661AFFY|Axiom_Smokesc1_Affx-31859138fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/24/1705/24/17151Genomicunknown
ss3002780533SWEGEN|NC_000008.10:g.18258370G>Afwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa05/30/1705/30/17151Genomicunknown
ss3022824469ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685705-0_T_F_1923009289fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa06/28/1706/28/17151Genomicunknown
ss3348074289CSHL|rs1799931fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa10/02/1710/02/17151Genomicunknown
ss3555514818TOPMED|TOPMed_freeze_5?chr8:18,400,860fwd/A/Gaatctcgtgcccaaacctggtgatgatcccttactatttagaataaggaa10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1799931|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CATTGTCGAT GCTGGGTCTG GAAGCTCCTC CCAGATGTGG CAGCCTCTAG AATTAATTTC
 TGGGAAGGAT CAGCCTCAGG TGCCTTGCAT TTTCTGCTTG ACAGAAGAGA GAGGAATCTG
 GTACCTGGAC CAAATCAGGA GAGAGCAGTA TATTACAAAC AAAGAATTTC TTAATTCTCA
 TCTCCTGCCA AAGAAGAAAC ACCAAAAAAT ATACTTATTT ACGCTTGAAC CTCGAACAAT
 TGAAGATTTT GAGTCTATGA ATACATACCT GCAGACGTCT CCAACATCTT CATTTATAAC
 CACATCATTT TGTTCCTTGC AGACCCCAGA AGGGGTTTAC TGTTTGGTGG GCTTCATCCT
 CACCTATAGA AAATTCAATT ATAAAGACAA TACAGATCTG GTCGAGTTTA AAACTCTCAC
 TGAGGAAGAG GTTGAAGAAG TGCTGAGAAA TATATTTAAG ATTTCCTTGG GGAGAAATCT
 CGTGCCCAAA CCTGGTGATG
 R
 ATCCCTTACT ATTTAGAATA AGGAACAAAA TAAACCCTTG TGTATGTATC ACCCAACTCA
 CTAATTATCA ACTTATGTGC TATCAGATAT CCTCTCTACC CTCACGTTAT TTTGAAGAAA
 ATCCTAAACA TCAAATACTT TCATCCATAA AAATGTCAGC ATTTATTAAA AAACAATAAC
 TTTTTAAAGA AACATAAGGA CACATTTTCA AATTAATAAA AATAAAGGCA TTTTAAGGAT
 GGCCTGTGAT TATCTTGGGA AGCAGAGTGA TTCATGCTAG AAAACATTTA ATATTGATTT
 ATTGTTGAAT TCATAGTAAA TTTTTACTGG TAAATGAATA AAGAATATTG TGGAAAAACT
 CACTGTCTCT AAAGTTTATG AAAACATTGT TGGCTAATAT ATTGTGAATC AAAGTTTTTC
 TTTAGACGAC TTAGGATATT ATGGGGCTAG GCATTTTTTC CTCAATAGAG TCTTCCTCTC
 ATCCTCTTTC TTGTCTCCTA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
X14672
dbSNP Blast Analysis
UniGene Cluster ID
2
3D structure mapping
NP_000006  
OMIM
612182.0004

  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/G
G/G
HWPA
G
ss1328853927EAS 1008AF 0.179600000.82040000
EUR 1006AF 0.022900000.97710001
AFR 1322AF 0.028700000.97130001
AMR 694AF 0.112400000.88760000
SAS 978AF 0.068500000.93150002
ss140403753ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss1689107952ExAc_Aggregated_Populations121010AF 0.052037020.94796300
ss223576396pilot_1_YRI_low_coverage_panel 118AF 0.033898310.96610171
ss234345866pilot_1_CEU_low_coverage_panel 120AF 0.008333330.99166667
ss241221836pilot_1_CHB+JPT_low_coverage_panel 120AF 0.183333340.81666666
ss24180357AFD_EUR_PANELEuropean 48IG 0.041666670.958333311.000000000.020833330.97916669
AFD_AFR_PANELAfrican American 46IG 1.00000000 1.00000000
AFD_CHN_PANELAsian 48IG 0.125000000.875000001.000000000.062500000.93750000
ss342253628ESP_Cohort_Populations 3780GF0.000529100.044973540.954497341.000000000.023015870.97698414
ss491921845CSAgilent 1277GF 0.056000000.944000011.000000000.028000000.97200000
ss5586794P1 202AF0.020000000.089000000.890999970.010028000.064000010.93600005
CAUC1 62AF0.03200000 0.967999990.001000000.032000000.96799999
AFR1 48AF 1.00000000 1.00000000
HISP1 46AF 0.087000000.913000051.000000000.043000000.95699996
PAC1 46AF0.043000000.303999990.653000001.000000000.195999990.80400002
ss66858971HSP_GENO_PANEL 120IG 0.166666670.833333311.000000000.083333340.91666669
CEU_GENO_PANELEuropean 120IG 0.033333340.966666641.000000000.016666670.98333335
AAM_GENO_PANELAfrican American 120IG 0.066666670.933333341.000000000.033333340.96666664
CHB_GENO_PANELAsian 90IG0.022222220.400000010.577777800.294266000.222222220.77777779
YRI_GENO_PANELSub-Saharan African 120IG 0.100000000.899999981.000000000.050000000.94999999
JPT_GENO_PANELAsian 88IG0.022727270.113636370.863636370.150222000.079545450.92045456
ss69042401HapMap-CEUEuropean 120IG 0.033333340.966666641.000000000.016666670.98333335
HapMap-HCBAsian 90IG0.022222220.400000010.577777800.294266000.222222220.77777779
HapMap-JPTAsian 90IG0.022222220.111111110.866666670.150222000.077777780.92222220
HapMap-YRISub-Saharan African 120IG 0.100000000.899999981.000000000.050000000.94999999
ss70456622PDR90-PANEL 176AF 0.068181820.93181819
Brazilian Population 620AF0.030000000.150000010.819999990.001000000.100000000.89999998
ss84168281PA147989478 356AF 0.084269670.91573036
ss86271256AGI_ASP_populationmultiple 66IG 0.030303030.969697001.000000000.015151520.98484850
ss99307911HapMap-CEUEuropean 226IG 0.017699110.982300881.000000000.008849560.99115044
HapMap-HCBAsian 86IG0.023255810.372093020.604651150.438578000.209302320.79069769
HapMap-JPTAsian 168IG0.035714290.142857150.821428600.025056000.107142860.89285713
HapMap-YRISub-Saharan African 226IG 0.061946900.938053071.000000000.030973450.96902657
P24 48AF 0.020000000.98000002
HAPMAP-ASW 98IG 0.102040820.897959171.000000000.051020410.94897962
HAPMAP-CHBAsian 82IG 0.317073170.682926830.527089000.158536580.84146339
HAPMAP-CHD 170IG0.035294120.129411770.835294130.010028000.100000000.89999998
HAPMAP-GIH 176IG 0.125000000.875000001.000000000.062500000.93750000
HAPMAP-LWK 180IG 0.033333340.966666641.000000000.016666670.98333335
HAPMAP-MEX 100IG 0.340000000.660000030.438578000.170000000.82999998
HAPMAP-MKK 286IG0.006993010.097902100.895104890.402784000.055944060.94405591
HAPMAP-TSI 174IG 0.022988510.977011501.000000000.011494250.98850572

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.104+/-0.2030000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement