rs749085322

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	3	Carrier of a Wilson disease mutation
(T;T)	0	common in clinvar

Make rs749085322(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

51941132

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs749085322
dbSNP (classic)	rs749085322
ClinGen	rs749085322
ebi	rs749085322
HLI	rs749085322
Exac	rs749085322
Gnomad	rs749085322
Varsome	rs749085322
LitVar	rs749085322
Map	rs749085322
PheGenI	rs749085322
Biobank	rs749085322
1000 genomes	rs749085322
hgdp	rs749085322
ensembl	rs749085322
geneview	rs749085322
scholar	rs749085322
google	rs749085322
pharmgkb	rs749085322
gwascentral	rs749085322
openSNP	rs749085322
23andMe	rs749085322
SNPshot	rs749085322
SNPdbe	rs749085322
MSV3d	rs749085322
GWAS Ctlg	rs749085322

Max Magnitude

3

ClinVar
Risk	rs749085322(C;C)
Alt	rs749085322(C;C)
Reference	Rs749085322(T;T)
Significance	Probable-Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	0
HGVS	NC_000013.10:g.52515268T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000193725.1,