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

rs368292687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs368292687(C;T)
Make rs368292687(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49964125
GeneAQP5
is asnp
is mentioned by
dbSNPrs368292687
ebirs368292687
HLIrs368292687
Exacrs368292687
Varsomers368292687
Maprs368292687
PheGenIrs368292687
hapmaprs368292687
1000 genomesrs368292687
hgdprs368292687
ensemblrs368292687
gopubmedrs368292687
geneviewrs368292687
scholarrs368292687
googlers368292687
pharmgkbrs368292687
gwascentralrs368292687
openSNPrs368292687
23andMers368292687
23andMe allrs368292687
SNP Nexus

SNPshotrs368292687
SNPdbers368292687
MSV3drs368292687
GWAS Ctlgrs368292687
Max Magnitude0
ClinVar
Risk rs368292687(T;T)
Alt rs368292687(T;T)
Reference rs368292687(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.50357908C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000055669.2,