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

rs398123055

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123055(G;G)
Make rs398123055(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49962151
GeneAQP5
is asnp
is mentioned by
dbSNPrs398123055
ebirs398123055
HLIrs398123055
Exacrs398123055
Varsomers398123055
Maprs398123055
PheGenIrs398123055
hapmaprs398123055
1000 genomesrs398123055
hgdprs398123055
ensemblrs398123055
gopubmedrs398123055
geneviewrs398123055
scholarrs398123055
googlers398123055
pharmgkbrs398123055
gwascentralrs398123055
openSNPrs398123055
23andMers398123055
23andMe allrs398123055
SNP Nexus

SNPshotrs398123055
SNPdbers398123055
MSV3drs398123055
GWAS Ctlgrs398123055
Max Magnitude0
ClinVar
Risk rs398123055(G;G)
Alt rs398123055(G;G)
Reference rs398123055(T;T)
Significance Pathogenic
Disease Diffuse palmoplantar keratoderma
Variation info
Gene LOC101927318 AQP5
CLNDBN Diffuse palmoplantar keratoderma, Bothnian type
Reversed 0
HGVS NC_000012.11:g.50355934T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000055670.2,