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rs398123057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123057(A;G)
Make rs398123057(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49963495
GeneAQP5
is asnp
is mentioned by
dbSNPrs398123057
ebirs398123057
HLIrs398123057
Exacrs398123057
Varsomers398123057
Maprs398123057
PheGenIrs398123057
hapmaprs398123057
1000 genomesrs398123057
hgdprs398123057
ensemblrs398123057
gopubmedrs398123057
geneviewrs398123057
scholarrs398123057
googlers398123057
pharmgkbrs398123057
gwascentralrs398123057
openSNPrs398123057
23andMers398123057
23andMe allrs398123057
SNP Nexus

SNPshotrs398123057
SNPdbers398123057
MSV3drs398123057
GWAS Ctlgrs398123057
Max Magnitude0
ClinVar
Risk rs398123057(G;G)
Alt rs398123057(G;G)
Reference rs398123057(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.50357278A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000055672.4,