rs1057516380

Orientation

minus

Stabilized

minus

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

Make rs1057516380(A;A)

Make rs1057516380(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

51958509

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs1057516380
dbSNP (classic)	rs1057516380
ClinGen	rs1057516380
ebi	rs1057516380
HLI	rs1057516380
Exac	rs1057516380
Gnomad	rs1057516380
Varsome	rs1057516380
LitVar	rs1057516380
Map	rs1057516380
PheGenI	rs1057516380
Biobank	rs1057516380
1000 genomes	rs1057516380
hgdp	rs1057516380
ensembl	rs1057516380
geneview	rs1057516380
scholar	rs1057516380
google	rs1057516380
pharmgkb	rs1057516380
gwascentral	rs1057516380
openSNP	rs1057516380
23andMe	rs1057516380
SNPshot	rs1057516380
SNPdbe	rs1057516380
MSV3d	rs1057516380
GWAS Ctlg	rs1057516380

Max Magnitude

0

ClinVar
Risk	rs1057516380(A;A)
Alt	rs1057516380(A;A)
Reference	Rs1057516380(C;C)
Significance	Probable-Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52532645G>T
CLNSRC
CLNACC	RCV000411738.1,