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rs121912732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912732(A;G)
Make rs121912732(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position110342430
GeneATP2A2
is asnp
is mentioned by
dbSNPrs121912732
ebirs121912732
HLIrs121912732
Exacrs121912732
Varsomers121912732
Maprs121912732
PheGenIrs121912732
hapmaprs121912732
1000 genomesrs121912732
hgdprs121912732
ensemblrs121912732
gopubmedrs121912732
geneviewrs121912732
scholarrs121912732
googlers121912732
pharmgkbrs121912732
gwascentralrs121912732
openSNPrs121912732
23andMers121912732
23andMe allrs121912732
SNP Nexus

SNPshotrs121912732
SNPdbers121912732
MSV3drs121912732
GWAS Ctlgrs121912732
Max Magnitude0
OMIM108740
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912732(G;G)
Alt rs121912732(G;G)
Reference rs121912732(A;A)
Significance Pathogenic
Disease Darier disease
Variation info
Gene ATP2A2
CLNDBN Darier disease, acral hemorrhagic type
Reversed 0
HGVS NC_000012.11:g.110780235A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019370.27,