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rs121912731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912731(C;T)
Make rs121912731(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position110292122
GeneATP2A2
is asnp
is mentioned by
dbSNPrs121912731
ebirs121912731
HLIrs121912731
Exacrs121912731
Varsomers121912731
Maprs121912731
PheGenIrs121912731
hapmaprs121912731
1000 genomesrs121912731
hgdprs121912731
ensemblrs121912731
gopubmedrs121912731
geneviewrs121912731
scholarrs121912731
googlers121912731
pharmgkbrs121912731
gwascentralrs121912731
openSNPrs121912731
23andMers121912731
23andMe allrs121912731
SNP Nexus

SNPshotrs121912731
SNPdbers121912731
MSV3drs121912731
GWAS Ctlgrs121912731
Max Magnitude0
OMIM108740
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912731(T;T)
Alt rs121912731(T;T)
Reference rs121912731(C;C)
Significance Pathogenic
Disease Keratosis follicularis
Variation info
Gene ATP2A2
CLNDBN Keratosis follicularis
Reversed 0
HGVS NC_000012.11:g.110729927C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019368.28,