rs60986317

plus

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

Make rs60986317(A;A)

Make rs60986317(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51934853

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs60986317
dbSNP (classic)	rs60986317
ClinGen	rs60986317
ebi	rs60986317
HLI	rs60986317
Exac	rs60986317
Gnomad	rs60986317
Varsome	rs60986317
LitVar	rs60986317
Map	rs60986317
PheGenI	rs60986317
Biobank	rs60986317
1000 genomes	rs60986317
hgdp	rs60986317
ensembl	rs60986317
geneview	rs60986317
scholar	rs60986317
google	rs60986317
pharmgkb	rs60986317
gwascentral	rs60986317
openSNP	rs60986317
23andMe	rs60986317
SNPshot	rs60986317
SNPdbe	rs60986317
MSV3d	rs60986317
GWAS Ctlg	rs60986317

GMAF

0.001377

Max Magnitude

0

ClinVar
Risk	rs60986317(A;A)
Alt	rs60986317(A;A)
Reference	Rs60986317(G;G)
Significance	Probable-Pathogenic
Disease	Wilson disease not provided not specified
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not provided not specified
Reversed	0
HGVS	NC_000013.10:g.52508989G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000029379.1, RCV000224611.1, RCV000251030.1,

[PMID 10544227 ] Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

[PMID 14962673] Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B.

[PMID 18483695] Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

[PMID 21454443 ] Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.

[PMID 21682854 ] Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.