rs398123054

Orientation

plus

Stabilized

plus

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

Make rs398123054(A;A)

Make rs398123054(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49962130

Gene	AQP5, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs398123054
dbSNP (classic)	rs398123054
ClinGen	rs398123054
ebi	rs398123054
HLI	rs398123054
Exac	rs398123054
Gnomad	rs398123054
Varsome	rs398123054
LitVar	rs398123054
Map	rs398123054
PheGenI	rs398123054
Biobank	rs398123054
1000 genomes	rs398123054
hgdp	rs398123054
ensembl	rs398123054
geneview	rs398123054
scholar	rs398123054
google	rs398123054
pharmgkb	rs398123054
gwascentral	rs398123054
openSNP	rs398123054
23andMe	rs398123054
SNPshot	rs398123054
SNPdbe	rs398123054
MSV3d	rs398123054
GWAS Ctlg	rs398123054

Max Magnitude

0

ClinVar
Risk	rs398123054(A;A) rs398123054(T;T)
Alt	rs398123054(A;A) rs398123054(T;T)
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 UniProtKB (protein)
CLNACC	RCV000055668.2,