Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912733(G;T)
Make rs121912733(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position110327725
GeneATP2A2
is asnp
is mentioned by
dbSNPrs121912733
ebirs121912733
HLIrs121912733
Exacrs121912733
Varsomers121912733
Maprs121912733
PheGenIrs121912733
hapmaprs121912733
1000 genomesrs121912733
hgdprs121912733
ensemblrs121912733
gopubmedrs121912733
geneviewrs121912733
scholarrs121912733
googlers121912733
pharmgkbrs121912733
gwascentralrs121912733
openSNPrs121912733
23andMers121912733
23andMe allrs121912733
SNP Nexus

SNPshotrs121912733
SNPdbers121912733
MSV3drs121912733
GWAS Ctlgrs121912733
Max Magnitude0
OMIM108740
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912733(T;T)
Alt rs121912733(T;T)
Reference rs121912733(G;G)
Significance Pathogenic
Disease Darier disease
Variation info
Gene ATP2A2
CLNDBN Darier disease, acral hemorrhagic type
Reversed 0
HGVS NC_000012.11:g.110765530G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019371.27,