rs398123055

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs398123055(G;G)

Make rs398123055(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49962151

Gene	AQP5, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs398123055
dbSNP (classic)	rs398123055
ClinGen	rs398123055
ebi	rs398123055
HLI	rs398123055
Exac	rs398123055
Gnomad	rs398123055
Varsome	rs398123055
LitVar	rs398123055
Map	rs398123055
PheGenI	rs398123055
Biobank	rs398123055
1000 genomes	rs398123055
hgdp	rs398123055
ensembl	rs398123055
geneview	rs398123055
scholar	rs398123055
google	rs398123055
pharmgkb	rs398123055
gwascentral	rs398123055
openSNP	rs398123055
23andMe	rs398123055
SNPshot	rs398123055
SNPdbe	rs398123055
MSV3d	rs398123055
GWAS Ctlg	rs398123055

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000055670.2,