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rs121912736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912736(A;A)
Make rs121912736(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position110342435
GeneATP2A2
is asnp
is mentioned by
dbSNPrs121912736
ebirs121912736
HLIrs121912736
Exacrs121912736
Varsomers121912736
Maprs121912736
PheGenIrs121912736
hapmaprs121912736
1000 genomesrs121912736
hgdprs121912736
ensemblrs121912736
gopubmedrs121912736
geneviewrs121912736
scholarrs121912736
googlers121912736
pharmgkbrs121912736
gwascentralrs121912736
openSNPrs121912736
23andMers121912736
23andMe allrs121912736
SNP Nexus

SNPshotrs121912736
SNPdbers121912736
MSV3drs121912736
GWAS Ctlgrs121912736
Max Magnitude0
OMIM108740
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912736(A;A)
Alt rs121912736(A;A)
Reference rs121912736(G;G)
Significance Pathogenic
Disease Darier disease
Variation info
Gene ATP2A2
CLNDBN Darier disease, segmental
Reversed 0
HGVS NC_000012.11:g.110780240G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019376.23,