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Reference SNP (refSNP) Cluster Report: rs1799930                 ** 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:byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData
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=0.2773/33553 (ExAC)
A=0.2650/1327 (1000 Genomes)
A=0.2820/3668 (GO-ESP)
A=0.2709/34015 (TOPMED)
HGVS Names
  • CM000670.2:g.18400593G>A
  • NC_000008.10:g.18258103G>A
  • NC_000008.11:g.18400593G>A
  • NG_012246.1:g.14349G>A
  • NM_000015.2:c.590G>A
  • NP_000006.2:p.Arg197Gln
  • XP_016868427.1:p.Arg197Gln
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 ss140403746 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1799930 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
ss2419981HGBASE|SNP000002398fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg11/07/0010/10/0389Genomicunknown
ss5586800SNP500CANCER|NAT2-08byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac09/26/0204/07/04113Genomicunknown
ss6311249RIKENSNPRC|ssj0007792fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac01/15/0310/10/03113Genomicunknown
ss17965718CSHL-HAPMAP|CSHL-HuCC-200402.chr8.NT_030737.8_6069024byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac02/19/0405/16/04120Genomicunknown
ss24664953PERLEGEN|afd1876299byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac08/10/0409/13/04123Genomicunknown
ss24796684SEQUENOM|sqnm142277byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac06/18/0408/05/04123cDNAunknown
ss28510798MGC_GENOME_DIFF|BC015878x37552654-G6069024Afwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac08/25/0408/25/04126cDNAunknown
ss44862213ABI|hCV1204091byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac07/19/0511/03/06126Genomicunknown
ss66091678AFFY|SNP_A-1947647byFreqfwd/TA/Gtttacgcttgaacctcaacaattgaagatttt10/27/0608/14/07127Genomicunknown
ss69042399PERLEGEN|PGP01876299byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac01/30/0708/14/07127Genomicunknown
ss70456617EGP_SNPS|NAT2-010660byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac04/19/0708/14/07127Genomicunknown
ss74874164ILLUMINA|ILMN_Human_1M_rs1799930fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac08/28/0708/29/07129Genomicunknown
ss76046502AFFY|AFFY_6_1M_SNP_A-1947647byFreqfwd/TA/Gtttacgcttgaacctcaacaattgaagatttt08/28/0703/07/10129Genomicunknown
ss76869173CGM_KYOTO|11627fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac09/12/0709/12/07129cDNAunknown
ss76890745SI_EXO|NT_030737.9_6103031byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac09/20/0709/05/14129Genomicunknown
ss77501762HGSV|Cor12156_SNV_20070510.chr8_18302383fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac10/09/0710/13/07129Genomicunknown
ss81586788KRIBB_YJKIM|KHS109748fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac11/30/0711/30/07130Genomicunknown
ss83735970HGSV|Cor19240_SNV_20070510.chr8_18302383fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac11/30/0712/05/07130Genomicunknown
ss86238190CORNELL|hCV1204091byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac01/21/0809/05/14129Genomicunknown
ss93848830BCMHGSC_JDW|JWB-2436464fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac02/26/0803/05/08129Genomicunknown
ss99307908SHGC|3132byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctntgaatac04/17/0809/05/14130Genomicunknown
ss104510603BGI|BGI_rs1799930fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac06/08/0806/18/09131Genomicunknown
ss1128808861000GENOMES|CEU.trio.12.15.2008_1943858_chr8_18302383fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac12/18/0812/18/08130Genomicunknown
ss1150751101000GENOMES|NA19240_2008_12_16_1752287_chr8_18302383fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac12/19/0812/19/08130Genomicunknown
ss115861055ILLUMINA-UK|NA18507_000042492_NCBI36.1_chr8_18302383fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac01/16/0901/16/09130Genomic99 %
ss140403746OMIM-CURATED-RECORDS|NP_000006.2:p.ARG197GLNfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac05/20/0905/22/09131Genomicunknown
ss153736157ILLUMINA|Human610_Quadv1_B_rs1799930-128_T_F_1513892773fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac06/18/0906/19/09131Genomicunknown
ss156100871GMI|GMI_SNP_66722892fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac06/24/0906/24/09131Genomicunknown
ss159329700ILLUMINA|Human660W-Quad_v1_A_rs1799930-128_T_F_1513892773fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac07/06/0907/07/09131Genomicunknown
ss159716515SEATTLESEQ|NAT2-18302383fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac07/10/0907/10/09131Genomicunknown
ss160462714ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1799930-128_T_F_1513892773fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac08/04/0910/02/09131Genomicunknown
ss161151849TOKAI-KISO|009byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac09/18/0909/05/14131Genomicunknown
ss161626143ENSEMBL|ENSSNP2782857fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac09/24/0909/25/09131Genomicunknown
ss162207622COMPLETE_GENOMICS|NA07022_36_chr8_18302383fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac09/28/0909/28/09132Genomicunknown
ss164094696COMPLETE_GENOMICS|NA19240_36_chr8_18302383fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac09/29/0909/29/09132Genomicunknown
ss170793981AFFY|GenomeWideSNP_5_SNP_A-1947647fwd/TA/Gtttacgcttgaacctcaacaattgaagatttt10/01/0910/02/09132Genomicunknown
ss172924248ILLUMINA|Human1M-Duov3_B_rs1799930-128_T_F_1513892773fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac10/01/0910/02/09132Genomicunknown
ss2235763921000GENOMES|pilot_1_YRI_5386075_chr8_18302383fwd/A/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac04/22/1004/22/10132Genomicunknown
ss2343458641000GENOMES|pilot_1_CEU_3950493_chr8_18302383fwd/A/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac05/01/1005/01/10132Genomicunknown
ss2412218341000GENOMES|pilot_1_CHB+JPT_3106911_chr8_18302383fwd/A/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac05/01/1005/01/10132Genomicunknown
ss244238722OMICIA|2010_April_001_040_NAT2_243400_0001fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac05/27/1005/28/10132Genomicunknown
ss244284960ILLUMINA|CVDSNP55v1_A_rs1799930fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac06/10/1006/10/10132Genomicunknown
ss252841660OMIM-CURATED-RECORDS|17213fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac08/12/1008/12/10132Genomicunknown
ss254157065BL|SNP37520_8_18302383fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac08/19/1008/19/10134Genomicunknown
ss279717737GMI|GMI_AK_SNP_4037990fwd/A/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac12/16/1012/16/10137Genomicunknown
ss294231047PJP|SNP_3737405_chr8_18302383fwd/A/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac01/21/1101/21/11134Genomicunknown
ss342253612NHLBI-ESP|ESP2500-chr8-18258103byFreqfwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac03/25/1109/05/14134Genomicunknown
ss410878055ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr8_18302383fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac06/07/1106/07/11135Genomicunknown
ss480300118ILLUMINA|HumanOmni2.5-4v1_B_rs1799930-128_T_F_1735650499fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg01/30/1210/29/16137Genomicunknown
ss480311209ILLUMINA|HumanOmniExpress-12v1_C_rs1799930-131_T_F_1857012340fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg01/30/1210/27/16137Genomicunknown
ss481066651ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1799930-131_T_F_1857012340fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg01/30/1208/28/15146Genomicunknown
ss484947870ILLUMINA|HumanOmni2.5-4v1_D_rs1799930-131_T_F_1857012340fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg01/30/1210/28/16137Genomicunknown
ss4909607261000GENOMES|20110521_exome_468524_chr8_18258103fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac02/10/1202/21/12137Genomicunknown
ss491410763EXOME_CHIP|nonsyn_126989_chr_8_18258103fwd/TA/Gaaaaaatatacttatttacgcttgaacctcaacaattgaagattttgagtctatgaatac03/05/1203/05/12137Genomicunknown
ss491921841CLINSEQ_SNP|SNV-chr8-18302383byFreqfwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg03/06/1209/05/14137Genomicunknown
ss536992203ILLUMINA|HumanOmni5-4v1_B_rs1799930-131_T_F_1893181782fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg06/22/1208/29/15146Genomicunknown
ss560588644TISHKOFF|snp_chr8_18258103fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg11/22/1211/23/12138Genomicunknown
ss655024499SSMP|8_18258103fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg12/14/1202/12/15138Genomicunknown
ss778467743ILLUMINA|HumanOmni25Exome-8v1_A_rs1799930-131_T_F_1867126146fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/30/1307/10/15146Genomicunknown
ss780867827ILLUMINA|HumanOmni25Exome-8v1_A_exm685683-0_T_F_1922963079fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/30/1307/10/15146Genomicunknown
ss782920243ILLUMINA|HumanOmni2.5-4v1_H_rs1799930-131_T_F_1857012340fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/30/1307/29/15146Genomicunknown
ss783552758ILLUMINA|HumanOmniExpressExome-8v1_A_exm685683-0_T_F_1922963079fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/31/1306/19/15146Genomicunknown
ss783883284ILLUMINA|HumanOmniExpressExome-8v1_A_rs1799930-131_T_F_1893181782fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/31/1306/19/15146Genomicunknown
ss832175365ILLUMINA|HumanOmniExpress-12v1_H_rs1799930-131_T_F_1857012340fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg09/17/1306/19/15146Genomicunknown
ss833923498ILLUMINA|HumanOmni2.5-8v1_A_rs1799930-131_T_F_1867126146fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg09/18/1307/29/15146Genomicunknown
ss974467366JMKIDD_LAB|KhoeSan_Exomes_chr8_18258103fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg03/06/1403/06/14142Genomicunknown
ss985256284EVA-GONL|EVA-GONL_rs1799930fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg04/23/1404/25/14142Genomicunknown
ss1067495865JMKIDD_LAB|HGDP_exomes_chr8_18258103fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg07/09/1407/09/14142Genomicunknown
ss1075326287JMKIDD_LAB|HGDP_WGS_chr8_18258103fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg07/10/1407/11/14142Genomicunknown
ss13288539121000GENOMES|PHASE3_V1_41164996fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg08/16/1408/16/14142Genomicunknown
ss1431436718DDI|DDI_rs1799930fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg11/04/1411/05/14144Genomicunknown
ss1582586560EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1799930fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg02/19/1502/20/15144Genomicunknown
ss1584057290EVA_FINRISK|EVA_FINRISK_rs1799930fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg02/27/1502/27/15144Genomicunknown
ss1594845140EVA_DECODE|EVA_DECODE_8_18302383_223850_rs1799930fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg03/02/1503/03/15144Genomicunknown
ss1620100542EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18258103_22761472fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg03/04/1503/04/15144Genomicunknown
ss1663094575EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18258103_22761472fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg03/04/1503/04/15144Genomicunknown
ss1689107890EVA_EXAC|EVA_EXAC_4197311fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg03/04/1503/04/15144Genomicunknown
ss1711194415EVA_MGP|EVA_XIMO_310175fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg03/09/1503/09/15144Genomicunknown
ss1713019601EVA_SVP|EVA_SVP_713968fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg03/12/1503/12/15144Genomicunknown
ss1752722189ILLUMINA|OmniExpressExome-8v1-1_B_exm685683-0_T_F_1922963079fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/27/1506/09/15146Genomicunknown
ss1752722190ILLUMINA|OmniExpressExome-8v1-1_B_rs1799930-131_T_F_1893181782fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/27/1506/09/15146Genomicunknown
ss1805425819HAMMER_LAB|Hsieh_4440012fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg07/15/1507/16/15146Genomicunknown
ss1917826208ILLUMINA|HumanExome-12v1-1_B_exm685683-0_T_F_1922963079fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg10/16/1510/16/15147Genomicunknown
ss1928545817WEILL_CORNELL_DGM|SNV:chr8:18258103fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg10/16/1510/17/15147Genomicunknown
ss1946231114ILLUMINA|HumanCoreExome-12v1-0_C_exm685683-0_T_F_1922963079fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg10/29/1510/29/15147Genomicunknown
ss1959092409ILLUMINA|exm685683-0_T_F_1922963079fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg11/13/1511/13/15147Genomicunknown
ss1970925401GENOMED|rs1799930fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg02/16/1602/16/16147Genomicunknown
ss2024971341JJLAB|SNP5473896fwd/TA/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg08/29/1608/30/16149Genomicunknown
ss2153192870USC_VALOUEV|NC_000008.10:g.18258103G>Afwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg11/17/1611/17/16150Genomicunknown
ss2301164560HUMAN_LONGEVITY|HLI-8-18400593-G-Afwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg11/18/1611/18/16150Genomicunknown
ss2470822157TOPMED|8_18258103_G/Afwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg11/20/1611/20/16150Genomicunknown
ss2634717907ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs1799930-131_T_F_2131fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg02/02/1702/02/17151Genomicunknown
ss2634717908ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1799930-131_T_F_18931817fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg02/02/1702/02/17151Genomicunknown
ss2708953253GRF|rs1799930fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg02/13/1702/13/17151Genomicunknown
ss2711131676ILLUMINA|Consortium-OncoArray_15047405_A_rs1799930-131_T_F_1893181782fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg03/22/1703/22/17151Genomicunknown
ss2737016730GNOMAD|exomes_rs1799930fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/17/1705/17/17151Genomicunknown
ss2748005950GNOMAD|coding_rs1799930fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/17/1705/17/17151Genomicunknown
ss2863932608GNOMAD|rs1799930fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/19/1705/19/17151Genomicunknown
ss2985432616AFFY|Axiom_PsorMich_Affx-31859127fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/24/1705/24/17151Genomicunknown
ss2986074659AFFY|Axiom_Smokesc1_Affx-31859127fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/24/1705/24/17151Genomicunknown
ss3002780528SWEGEN|NC_000008.10:g.18258103G>Afwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg05/30/1705/30/17151Genomicunknown
ss3022824458ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685683-0_T_F_1922963079fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg06/28/1706/28/17151Genomicunknown
ss3023063895EVA_SAMSUNG_MC|EXOMES.8:g18258103g>afwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg07/03/1707/03/17151Genomicunknown
ss3026276050BIOINF_KMB_FNS_UNIBA|8.18400593G>Afwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg07/05/1707/05/17151Genomicunknown
ss3029637979CSIRBIOHTS|NM_000015.2:g.18258103G>Afwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg07/28/1707/28/17151Genomicunknown
ss3348074287CSHL|rs1799930fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg10/02/1710/02/17151Genomicunknown
ss3555514764TOPMED|TOPMed_freeze_5?chr8:18,400,593fwd/A/Gatatacttatttacgcttgaacctcaacaattgaagattttgagtctatg10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1799930|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CCAGATCCGG GCTGTTCCCT TTGAGAACCT TAACATGCAT TGTGGGCAAG CCATGGAGTT
 GGGCTTAGAG GCTATTTTTG ATCACATTGT AAGAAGAAAC CGGGGTGGGT GGTGTCTCCA
 GGTCAATCAA CTTCTGTACT GGGCTCTGAC CACAATCGGT TTTCAGACCA CAATGTTAGG
 AGGGTATTTT TACATCCCTC CAGTTAACAA ATACAGCACT GGCATGGTTC ACCTTCTCCT
 GCAGGTGACC ATTGACGGCA GGAATTACAT TGTCGATGCT GGGTCTGGAA GCTCCTCCCA
 GATGTGGCAG CCTCTAGAAT TAATTTCTGG GAAGGATCAG CCTCAGGTGC CTTGCATTTT
 CTGCTTGACA GAAGAGAGAG GAATCTGGTA CCTGGACCAA ATCAGGAGAG AGCAGTATAT
 TACAAACAAA GAATTTCTTA ATTCTCATCT CCTGCCAAAG AAGAAACACC AAAAAATATA
 CTTATTTACG CTTGAACCTC
 R
 AACAATTGAA GATTTTGAGT CTATGAATAC ATACCTGCAG ACGTCTCCAA CATCTTCATT
 TATAACCACA TCATTTTGTT CCTTGCAGAC CCCAGAAGGG GTTTACTGTT TGGTGGGCTT
 CATCCTCACC TATAGAAAAT TCAATTATAA AGACAATACA GATCTGGTCG AGTTTAAAAC
 TCTCACTGAG GAAGAGGTTG AAGAAGTGCT GAGAAATATA TTTAAGATTT CCTTGGGGAG
 AAATCTCGTG CCCAAACCTG GTGATGGATC CCTTACTATT TAGAATAAGG AACAAAATAA
 ACCCTTGTGT ATGTATCACC CAACTCACTA ATTATCAACT TATGTGCTAT CAGATATCCT
 CTCTACCCTC ACGTTATTTT GAAGAAAATC CTAAACATCA AATACTTTCA TCCATAAAAA
 TGTCAGCATT TATTAAAAAA CAATAACTTT TTAAAGAAAC ATAAGGACAC ATTTTCAAAT
 TAATAAAAAT AAAGGCATTT

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
sqnm142277 X14672 BC015878
dbSNP Blast Analysis
UniGene Cluster ID
2
3D structure mapping
NP_000006  
OMIM
612182.0001
243400.0001

  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
A/G
G
G/G
N
HWPA
G
N
ss115861055YRI 2IG 1.00000000 0.500000000.50000000
ss1328853912EAS 1008AF 0.256000010.74400002
EUR 1006AF 0.282300000.71770000
AFR 1322AF 0.237500010.76250005
AMR 694AF 0.171500010.82850003
SAS 978AF 0.359900000.64010000
ss140403746ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss161151849Japanese 488GF 0.032786880.27868852 0.68852460 0.751830000.172131150.82786888
ss161626143ENSEMBL_celera 2IG 1.00000000 1.00000000
ss162207622CEUEuropean 2IG 1.00000000 1.00000000
ss164094696YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss1689107890ExAc_Aggregated_Populations121406AF 0.276839700.72316033
ss17965718CEPH 184AF 0.380000000.62000000
CHMJAsian 74IG0.17567568 0.81081080 0.01351351 0.175675680.810810800.01351351
ss223576392pilot_1_YRI_low_coverage_panel 118AF 0.177966100.82203388
ss234345864pilot_1_CEU_low_coverage_panel 120AF 0.300000010.69999999
ss241221834pilot_1_CHB+JPT_low_coverage_panel 120AF 0.208333330.79166669
ss24664953AFD_EUR_PANELEuropean 48IG 0.125000000.41666666 0.45833334 1.000000000.333333340.66666669
AFD_AFR_PANELAfrican American 46IG 0.043478260.56521738 0.39130434 0.200325000.326086970.67391306
AFD_CHN_PANELAsian 48IG 0.083333340.50000000 0.41666666 0.583882000.333333340.66666669
ss24796684CEPH 184AF 0.380000000.62000000
ss342253612ESP_Cohort_Populations 4246GF 0.069241640.39896372 0.53179461 0.527089000.268723520.73127651
ss44862213AoD_African_American 90AF 0.380000000.62000000
AoD_Caucasian 92AF 0.370000000.63000000
AoD_Chinese 90AF 0.310000000.69000000
AoD_Japanese 90AF 0.200000000.80000001
Brazilian Population 620AF 0.090000000.20000000 0.70999998 0.001000000.190000000.81000000
ss491921841CSAgilent 1315GF 0.087000000.41600001 0.49700001 1.000000000.294999990.70499998
ss5586800P1 202AF 0.099000000.35600001 0.54500002 0.273322000.277000010.72300005
CAUC1 62AF 0.097000000.48400000 0.41900000 0.751830000.338999990.66100001
AFR1 48AF 0.083000000.33300000 0.58399999 0.654721000.250000000.75000000
HISP1 46AF 0.043000000.30399999 0.65300000 1.000000000.195999990.80400002
PAC1 46AF 0.173999990.26099998 0.56500000 0.099721000.303999990.69599998
ss66091678HapMap-CEUEuropean 118IG 0.118644070.35593221 0.52542371 0.273322000.296610180.70338982
HapMap-HCBAsian 90IG 0.088888890.15555556 0.75555557 0.004998000.166666670.83333331
HapMap-JPTAsian 90IG 0.066666670.31111112 0.62222224 0.527089000.222222220.77777779
HapMap-YRISub-Saharan African 120IG 0.033333340.28333333 0.68333334 1.000000000.175000000.82499999
ss69042399HapMap-CEUEuropean 120IG 0.116666670.34999999 0.53333336 0.250592000.291666660.70833331
HapMap-HCBAsian 90IG 0.088888890.15555556 0.75555557 0.004998000.166666670.83333331
HapMap-JPTAsian 90IG 0.066666670.31111112 0.62222224 0.527089000.222222220.77777779
HapMap-YRISub-Saharan African 120IG 0.033333340.28333333 0.68333334 1.000000000.175000000.82499999
ss70456617PDR90-PANEL 174AF 0.258620680.74137932
ss76046502ICMHP 10IG 0.20000000 0.80000001 0.200000000.80000001
ss76890745HapMap-CEUEuropean 226IG 0.115044250.35398230 0.53097343 0.150222000.292035400.70796460
HapMap-HCBAsian 86IG 0.093023260.16279070 0.74418604 0.004998000.174418600.82558137
HapMap-JPTAsian 172IG 0.093023260.33720931 0.56976742 0.250592000.261627910.73837209
HapMap-YRISub-Saharan African 226IG 0.044247790.40707964 0.54867256 0.342782000.247787610.75221241
HAPMAP-ASW 98IG 0.020408160.46938777 0.51020408 0.150222000.255102040.74489796
HAPMAP-CHBAsian 82IG 0.024390240.36585367 0.60975611 0.479500000.207317070.79268295
HAPMAP-CHD 170IG 0.047058820.41176471 0.54117650 0.438578000.252941190.74705881
HAPMAP-GIH 176IG 0.102272730.50000000 0.39772728 0.371093000.352272720.64772725
HAPMAP-LWK 178IG 0.089887640.40449437 0.50561798 1.000000000.292134820.70786518
HAPMAP-MEX 96IG 0.020833330.31250000 0.66666669 0.654721000.177083330.82291669
HAPMAP-MKK 286IG 0.083916080.43356642 0.48251748 0.751830000.300699290.69930071
HAPMAP-TSI 176IG 0.090909090.39772728 0.51136363 0.751830000.289772720.71022725
ss86238190AGI_ASP_populationmultiple 72IG 0.166666670.30555555 0.52777779 0.099721000.319444450.68055558
ss99307908P24 48AF 0.230000000.76999998

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.401+/-0.1990000ALFRED: 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
byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
UNKNOWNUNKNOWNYES

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