rs398123057

Orientation

plus

Stabilized

plus

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

Make rs398123057(A;G)

Make rs398123057(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49963495

Gene	AQP5, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs398123057
dbSNP (classic)	rs398123057
ClinGen	rs398123057
ebi	rs398123057
HLI	rs398123057
Exac	rs398123057
Gnomad	rs398123057
Varsome	rs398123057
LitVar	rs398123057
Map	rs398123057
PheGenI	rs398123057
Biobank	rs398123057
1000 genomes	rs398123057
hgdp	rs398123057
ensembl	rs398123057
geneview	rs398123057
scholar	rs398123057
google	rs398123057
pharmgkb	rs398123057
gwascentral	rs398123057
openSNP	rs398123057
23andMe	rs398123057
SNPshot	rs398123057
SNPdbe	rs398123057
MSV3d	rs398123057
GWAS Ctlg	rs398123057

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000055672.4,