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rs398123054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123054(A;A)
Make rs398123054(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position49962130
GeneAQP5
is asnp
is mentioned by
dbSNPrs398123054
ebirs398123054
HLIrs398123054
Exacrs398123054
Varsomers398123054
Maprs398123054
PheGenIrs398123054
hapmaprs398123054
1000 genomesrs398123054
hgdprs398123054
ensemblrs398123054
gopubmedrs398123054
geneviewrs398123054
scholarrs398123054
googlers398123054
pharmgkbrs398123054
gwascentralrs398123054
openSNPrs398123054
23andMers398123054
23andMe allrs398123054
SNP Nexus

SNPshotrs398123054
SNPdbers398123054
MSV3drs398123054
GWAS Ctlgrs398123054
Max Magnitude0
ClinVar
Risk rs398123054(A;A)
Alt rs398123054(A;A)
Reference rs398123054(C;C)
Significance Pathogenic
Disease Diffuse palmoplantar keratoderma
Variation info
Gene LOC101927318 AQP5
CLNDBN Diffuse palmoplantar keratoderma, Bothnian type
Reversed 0
HGVS NC_000012.11:g.50355913C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000055668.2,