rs797045083

Orientation

minus

Stabilized

minus

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

Make rs797045083(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

51974837

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs797045083
dbSNP (classic)	rs797045083
ClinGen	rs797045083
ebi	rs797045083
HLI	rs797045083
Exac	rs797045083
Gnomad	rs797045083
Varsome	rs797045083
LitVar	rs797045083
Map	rs797045083
PheGenI	rs797045083
Biobank	rs797045083
1000 genomes	rs797045083
hgdp	rs797045083
ensembl	rs797045083
geneview	rs797045083
scholar	rs797045083
google	rs797045083
pharmgkb	rs797045083
gwascentral	rs797045083
openSNP	rs797045083
23andMe	rs797045083
SNPshot	rs797045083
SNPdbe	rs797045083
MSV3d	rs797045083
GWAS Ctlg	rs797045083

Max Magnitude

3

ClinVar
Risk	rs797045083(-;-)
Alt	rs797045083(-;-)
Reference	Rs797045083(G;G)
Significance	Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52548973delC
CLNSRC
CLNACC	RCV000190567.1,