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rs121917702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs121917702(A;A)
Make rs121917702(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position32847132
GeneTAP1
is asnp
is mentioned by
dbSNPrs121917702
ebirs121917702
HLIrs121917702
Exacrs121917702
Varsomers121917702
Maprs121917702
PheGenIrs121917702
hapmaprs121917702
1000 genomesrs121917702
hgdprs121917702
ensemblrs121917702
gopubmedrs121917702
geneviewrs121917702
scholarrs121917702
googlers121917702
pharmgkbrs121917702
gwascentralrs121917702
openSNPrs121917702
23andMers121917702
23andMe allrs121917702
SNP Nexus

SNPshotrs121917702
SNPdbers121917702
MSV3drs121917702
GWAS Ctlgrs121917702
GMAF0.001377
Max Magnitude0
OMIM170260
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121917702(A;A)
Alt rs121917702(A;A)
Reference rs121917702(G;G)
Significance Pathogenic
Disease TAP1 deficiency
Variation info
Gene TAP1
CLNDBN TAP1 deficiency, somatic
Reversed 1
HGVS NC_000006.11:g.32814909C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014734.4,