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rs398123056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123056(A;T)
Make rs398123056(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49964092
GeneAQP5
is asnp
is mentioned by
dbSNPrs398123056
ebirs398123056
HLIrs398123056
Exacrs398123056
Varsomers398123056
Maprs398123056
PheGenIrs398123056
hapmaprs398123056
1000 genomesrs398123056
hgdprs398123056
ensemblrs398123056
gopubmedrs398123056
geneviewrs398123056
scholarrs398123056
googlers398123056
pharmgkbrs398123056
gwascentralrs398123056
openSNPrs398123056
23andMers398123056
23andMe allrs398123056
SNP Nexus

SNPshotrs398123056
SNPdbers398123056
MSV3drs398123056
GWAS Ctlgrs398123056
Max Magnitude0
ClinVar
Risk rs398123056(G,T;G,T)
Alt rs398123056(G,T;G,T)
Reference rs398123056(A;A)
Significance Pathogenic
Disease Diffuse palmoplantar keratoderma
Variation info
Gene LOC101927318 AQP5
CLNDBN Diffuse palmoplantar keratoderma, Bothnian type
Reversed 0
HGVS NC_000012.11:g.50357875A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000055671.2,