rs758355520

Orientation

plus

Stabilized

plus

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

Make rs758355520(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

51937561

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs758355520
dbSNP (classic)	rs758355520
ClinGen	rs758355520
ebi	rs758355520
HLI	rs758355520
Exac	rs758355520
Gnomad	rs758355520
Varsome	rs758355520
LitVar	rs758355520
Map	rs758355520
PheGenI	rs758355520
Biobank	rs758355520
1000 genomes	rs758355520
hgdp	rs758355520
ensembl	rs758355520
geneview	rs758355520
scholar	rs758355520
google	rs758355520
pharmgkb	rs758355520
gwascentral	rs758355520
openSNP	rs758355520
23andMe	rs758355520
SNPshot	rs758355520
SNPdbe	rs758355520
MSV3d	rs758355520
GWAS Ctlg	rs758355520

Max Magnitude

3

ClinVar
Risk	rs758355520(A;A)
Alt	rs758355520(A;A)
Reference	Rs758355520(G;G)
Significance	Probable-Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	0
HGVS	NC_000013.10:g.52511697G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169558.1,