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rs121912734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912734(C;C)
Make rs121912734(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position110339638
GeneATP2A2
is asnp
is mentioned by
dbSNPrs121912734
ebirs121912734
HLIrs121912734
Exacrs121912734
Varsomers121912734
Maprs121912734
PheGenIrs121912734
hapmaprs121912734
1000 genomesrs121912734
hgdprs121912734
ensemblrs121912734
gopubmedrs121912734
geneviewrs121912734
scholarrs121912734
googlers121912734
pharmgkbrs121912734
gwascentralrs121912734
openSNPrs121912734
23andMers121912734
23andMe allrs121912734
SNP Nexus

SNPshotrs121912734
SNPdbers121912734
MSV3drs121912734
GWAS Ctlgrs121912734
Max Magnitude0
OMIM108740
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912734(C;C)
Alt rs121912734(C;C)
Reference rs121912734(T;T)
Significance Pathogenic
Disease Keratosis follicularis
Variation info
Gene ATP2A2
CLNDBN Keratosis follicularis
Reversed 0
HGVS NC_000012.11:g.110777443T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019372.23,