rs587783307

Orientation

minus

Stabilized

minus

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

Make rs587783307(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

51946333

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs587783307
dbSNP (classic)	rs587783307
ClinGen	rs587783307
ebi	rs587783307
HLI	rs587783307
Exac	rs587783307
Gnomad	rs587783307
Varsome	rs587783307
LitVar	rs587783307
Map	rs587783307
PheGenI	rs587783307
Biobank	rs587783307
1000 genomes	rs587783307
hgdp	rs587783307
ensembl	rs587783307
geneview	rs587783307
scholar	rs587783307
google	rs587783307
pharmgkb	rs587783307
gwascentral	rs587783307
openSNP	rs587783307
23andMe	rs587783307
SNPshot	rs587783307
SNPdbe	rs587783307
MSV3d	rs587783307
GWAS Ctlg	rs587783307

Max Magnitude

3

ClinVar
Risk	rs587783307(C;C)
Alt	rs587783307(C;C)
Reference	Rs587783307(A;A)
Significance	Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52520469T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000145267.1,