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rs387906594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906594(C;T)
Make rs387906594(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position110340990
GeneATP2A2
is asnp
is mentioned by
dbSNPrs387906594
ebirs387906594
HLIrs387906594
Exacrs387906594
Varsomers387906594
Maprs387906594
PheGenIrs387906594
hapmaprs387906594
1000 genomesrs387906594
hgdprs387906594
ensemblrs387906594
gopubmedrs387906594
geneviewrs387906594
scholarrs387906594
googlers387906594
pharmgkbrs387906594
gwascentralrs387906594
openSNPrs387906594
23andMers387906594
23andMe allrs387906594
SNP Nexus

SNPshotrs387906594
SNPdbers387906594
MSV3drs387906594
GWAS Ctlgrs387906594
Max Magnitude0
ClinVar
Risk rs387906594(T;T)
Alt rs387906594(T;T)
Reference rs387906594(C;C)
Significance Pathogenic
Disease Acrokeratosis verruciformis of Hopf
Variation info
Gene ATP2A2
CLNDBN Acrokeratosis verruciformis of Hopf
Reversed 0
HGVS NC_000012.11:g.110778795C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022449.23,