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Reference SNP (refSNP) Cluster Report: rs1801279                 ** 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=0.0079/955 (ExAC)
A=0.0278/139 (1000 Genomes)
A=0.0264/344 (GO-ESP)
A=0.0264/3320 (TOPMED)
HGVS Names
  • CM000670.2:g.18400194G>A
  • NC_000008.10:g.18257704G>A
  • NC_000008.11:g.18400194G>A
  • NG_012246.1:g.13950G>A
  • NM_000015.2:c.191G>A
  • NP_000006.2:p.Arg64Gln
  • XP_016868427.1:p.Arg64Gln
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 ss70456612 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1801279 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
ss2421518HGBASE|SNP000003453fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat11/07/0010/10/0389cDNAunknown
ss24796682SEQUENOM|sqnm142275fwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact06/18/0406/18/04123cDNAunknown
ss66858966EGP_SNPS|NAT2_010261byFreqfwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact11/09/0612/16/06127Genomicunknown
ss69042396PERLEGEN|PGP04652196byFreqfwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact01/30/0708/14/07127Genomicunknown
ss70456612EGP_SNPS|NAT2-010261byFreqfwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact04/19/0708/14/07127Genomicunknown
ss74813623AFFY|SNP_M-289727fwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact08/09/0708/09/07128Genomicunknown
ss76869168CGM_KYOTO|11622fwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact09/12/0709/12/07129cDNAunknown
ss86271257CORNELL|hCV572771byFreqfwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact01/21/0809/05/14129Genomicunknown
ss1150750621000GENOMES|NA19240_2008_12_16_1752285_chr8_18301984fwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact12/19/0812/19/08130Genomicunknown
ss120035950ILLUMINA|GS0007123-OPA_Ober-rs1801279rev/BC/Tagttgattgacctggagacaccacccacccggtttcttcttacaatgtgatcaaaaatag02/24/0902/24/09131Genomicunknown
ss159716511SEATTLESEQ|NAT2-18301984fwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact07/10/0907/10/09131Genomicunknown
ss164094673COMPLETE_GENOMICS|NA19240_36_chr8_18301984fwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact09/29/0909/29/09132Genomicunknown
ss2235763871000GENOMES|pilot_1_YRI_5386070_chr8_18301984fwd/A/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact04/22/1004/22/10132Genomicunknown
ss342253600NHLBI-ESP|ESP2500-chr8-18257704byFreqfwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact03/25/1109/05/14134Genomicunknown
ss410878050ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr8_18301984fwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact06/07/1106/07/11135Genomicunknown
ss480300989ILLUMINA|HumanOmni2.5-4v1_B_rs1801279-128_B_R_1616866816fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat01/30/1210/29/16137Genomicunknown
ss480312103ILLUMINA|HumanOmniExpress-12v1_C_rs1801279-131_B_R_1857012661fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat01/30/1210/27/16137Genomicunknown
ss481067887ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1801279-131_B_R_1865332317fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat01/30/1208/28/15146Genomicunknown
ss482176874ILLUMINA|HumanOmni2.5-4v1_D_kgp20605308-0_T_F_1837176124fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat01/30/1210/28/16137Genomicunknown
ss484948307ILLUMINA|HumanOmni2.5-4v1_D_rs1801279-131_B_R_1857012661fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat01/30/1210/28/16137Genomicunknown
ss485580718ILLUMINA|HumanOmni2.5-4v1_B_SNP8-18301984-0_T_F_1639452513fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat01/30/1210/29/16137Genomicunknown
ss4909607161000GENOMES|20110521_exome_468514_chr8_18257704fwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact02/10/1202/21/12137Genomicunknown
ss491410754EXOME_CHIP|nonsyn_126980_chr_8_18257704fwd/TA/Gctatttttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaatcaact03/05/1203/05/12137Genomicunknown
ss534532305ILLUMINA|HumanOmni5-4v1_B_kgp20605308-0_B_R_1837176148fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat06/22/1208/29/15146Genomicunknown
ss536992455ILLUMINA|HumanOmni5-4v1_B_rs1801279-131_B_R_1885767273fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat06/22/1208/29/15146Genomicunknown
ss560588638TISHKOFF|snp_chr8_18257704fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat11/22/1211/23/12138Genomicunknown
ss778841551ILLUMINA|HumanOmni25Exome-8v1_A_rs1801279-131_B_R_1869436589fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/30/1307/10/15146Genomicunknown
ss780650150ILLUMINA|HumanOmni25Exome-8v1_A_kgp20605308-0_B_R_1837176148fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/30/1307/10/15146Genomicunknown
ss780867821ILLUMINA|HumanOmni25Exome-8v1_A_exm685662-0_T_F_1922920815fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/30/1307/10/15146Genomicunknown
ss781674493ILLUMINA|HumanOmni2.5-4v1_H_kgp20605308-0_T_F_1837176124fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/30/1307/29/15146Genomicunknown
ss782920461ILLUMINA|HumanOmni2.5-4v1_H_rs1801279-131_B_R_1857012661fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/30/1307/29/15146Genomicunknown
ss783552752ILLUMINA|HumanOmniExpressExome-8v1_A_exm685662-0_T_F_1922920815fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/31/1306/19/15146Genomicunknown
ss783601150ILLUMINA|HumanOmniExpressExome-8v1_A_kgp20605308-0_B_R_1837176148fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/31/1306/19/15146Genomicunknown
ss783883487ILLUMINA|HumanOmniExpressExome-8v1_A_rs1801279-131_B_R_1885767273fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/31/1306/19/15146Genomicunknown
ss832175588ILLUMINA|HumanOmniExpress-12v1_H_rs1801279-131_B_R_1857012661fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat09/17/1306/19/15146Genomicunknown
ss834302109ILLUMINA|HumanOmni2.5-8v1_A_rs1801279-131_B_R_1869436589fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat09/18/1307/29/15146Genomicunknown
ss836144967ILLUMINA|HumanOmni2.5-8v1_A_kgp20605308-0_B_R_1837176148fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat09/18/1307/29/15146Genomicunknown
ss985256278EVA-GONL|EVA-GONL_rs1801279fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat04/23/1404/25/14142Genomicunknown
ss1067495860JMKIDD_LAB|HGDP_exomes_chr8_18257704fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat07/09/1407/09/14142Genomicunknown
ss1075326282JMKIDD_LAB|HGDP_WGS_chr8_18257704fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat07/10/1407/11/14142Genomicunknown
ss13288538921000GENOMES|PHASE3_V1_41164976fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat08/16/1408/16/14142Genomicunknown
ss1397519432HAMMER_LAB|HAMMER_LAB_rs1801279fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat09/30/1409/30/14146Genomicunknown
ss1689107810EVA_EXAC|EVA_EXAC_4197226fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat03/04/1503/04/15144Genomicunknown
ss1752722179ILLUMINA|OmniExpressExome-8v1-1_B_exm685662-0_T_F_1922920815fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/27/1506/09/15146Genomicunknown
ss1752722180ILLUMINA|OmniExpressExome-8v1-1_B_rs1801279-131_B_R_2087475898fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/27/1506/09/15146Genomicunknown
ss1805425817HAMMER_LAB|Hsieh_4440010fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat07/15/1507/16/15146Genomicunknown
ss1917826202ILLUMINA|HumanExome-12v1-1_B_exm685662-0_T_F_1922920815fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat10/16/1510/16/15147Genomicunknown
ss1946231105ILLUMINA|HumanCoreExome-12v1-0_C_exm685662-0_T_F_1922920815fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat10/29/1510/29/15147Genomicunknown
ss1946231106ILLUMINA|HumanCoreExome-12v1-0_C_kgp20605308-0_B_R_1837176148fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat10/29/1510/29/15147Genomicunknown
ss1959092395ILLUMINA|exm685662-0_T_F_1922920815fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat11/13/1511/13/15147Genomicunknown
ss1959092396ILLUMINA|kgp20605308-0_B_R_1837176148fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat11/13/1511/13/15147Genomicunknown
ss2024971335JJLAB|SNP5473890fwd/TA/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat08/29/1608/30/16149Genomicunknown
ss2301164529HUMAN_LONGEVITY|HLI-8-18400194-G-Afwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat11/18/1611/18/16150Genomicunknown
ss2470822128TOPMED|8_18257704_G/Afwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat11/20/1611/20/16150Genomicunknown
ss2634717895ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs1801279-131_B_R_2131fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat02/02/1702/02/17151Genomicunknown
ss2634717896ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp20605308-0_B_R_18371761fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat02/02/1702/02/17151Genomicunknown
ss2634717897ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1801279-131_B_R_20874758fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat02/02/1702/02/17151Genomicunknown
ss2711131665ILLUMINA|Consortium-OncoArray_15047405_A_kgp20605308-0_B_R_1837176148fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat03/22/1703/22/17151Genomicunknown
ss2737016609GNOMAD|exomes_rs1801279fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/17/1705/17/17151Genomicunknown
ss2748005912GNOMAD|coding_rs1801279fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/17/1705/17/17151Genomicunknown
ss2863932570GNOMAD|rs1801279fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/19/1705/19/17151Genomicunknown
ss2985432609AFFY|Axiom_PsorMich_Affx-31859113fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/24/1705/24/17151Genomicunknown
ss2986074655AFFY|Axiom_Smokesc1_Affx-31859113fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat05/24/1705/24/17151Genomicunknown
ss3022824445ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685662-0_T_F_1922920815fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat06/28/1706/28/17151Genomicunknown
ss3022824446ILLUMINA|MEGA_Consortium_v2_15070954_A2_kgp20605308-0_B_R_1837176148fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat06/28/1706/28/17151Genomicunknown
ss3029637974CSIRBIOHTS|NM_000015.2:g.18257704G>Afwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat07/28/1707/28/17151Genomicunknown
ss3555514690TOPMED|TOPMed_freeze_5?chr8:18,400,194fwd/A/Gtttgatcacattgtaagaagaaaccgggtgggtggtgtctccaggtcaat10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1801279|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CACGAGGAAA TCAAATGCTA AAGTATGATA TGTTTTTATG TTTTGTTTTT CTTGCTTAGG
 GGATCATGGA CATTGAAGCA TATTTTGAAA GAATTGGCTA TAAGAACTCT AGGAACAAAT
 TGGACTTGGA AACATTAACT GACATTCTTG AGCACCAGAT CCGGGCTGTT CCCTTTGAGA
 ACCTTAACAT GCATTGTGGG CAAGCCATGG AGTTGGGCTT AGAGGCTATT TTTGATCACA
 TTGTAAGAAG AAACC
 R
 GGGTGGGTGG TGTCTCCAGG TCAATCAACT TCTGTACTGG GCTCTGACCA CAATCGGTTT
 TCAGACCACA ATGTTAGGAG GGTATTTTTA CATCCCTCCA GTTAACAAAT ACAGCACTGG
 CATGGTTCAC CTTCTCCTGC AGGTGACCAT TGACGGCAGG AATTACATTG TCGATGCTGG
 GTCTGGAAGC TCCTCCCAGA TGTGGCAGCC TCTAGAATTA ATTTCTGGGA AGGATCAGCC
 TCAGGTGCCT TGCAT

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
sqnm142275 X14672
dbSNP Blast Analysis
UniGene Cluster ID
2
3D structure mapping
NP_000006  

  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
ss1328853892EAS 1008AF 1.00000000
EUR 1006AF 0.001000000.99900001
AFR 1322AF 0.102900000.89709997
AMR 694AF 0.002900000.99710006
SAS 978AF 1.00000000
ss164094673YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss1689107810ExAc_Aggregated_Populations121412AF 0.007865780.99213421
ss223576387pilot_1_YRI_low_coverage_panel 118AF 0.110169490.88983053
ss342253600ESP_Cohort_Populations 4540GF0.002202640.062114540.935682830.150222000.033259910.96674007
ss66858966HSP_GENO_PANEL 54IG 0.037037040.962962991.000000000.018518520.98148149
CEU_GENO_PANELEuropean 68IG 1.00000000 1.00000000
AAM_GENO_PANELAfrican American 124IG 0.161290320.838709651.000000000.080645160.91935486
CHB_GENO_PANELAsian 90IG 1.00000000 1.00000000
YRI_GENO_PANELSub-Saharan African 120IG 0.183333340.816666660.751830000.091666670.90833336
JPT_GENO_PANELAsian 24IG 1.00000000 1.00000000
ss69042396HapMap-CEUEuropean 120IG 1.00000000 1.00000000
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 90IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG 0.183333340.816666660.751830000.091666670.90833336
ss70456612PDR90-PANEL 174AF 0.022988510.97701150
ss86271257AGI_ASP_populationmultiple 58IG 0.068965520.931034511.000000000.034482760.96551722

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.016+/-0.0870000ALFRED: 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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