rs1057517191

Orientation

minus

Stabilized

minus

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

Make rs1057517191(-;-)

Make rs1057517191(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

51934912

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs1057517191
dbSNP (classic)	rs1057517191
ClinGen	rs1057517191
ebi	rs1057517191
HLI	rs1057517191
Exac	rs1057517191
Gnomad	rs1057517191
Varsome	rs1057517191
LitVar	rs1057517191
Map	rs1057517191
PheGenI	rs1057517191
Biobank	rs1057517191
1000 genomes	rs1057517191
hgdp	rs1057517191
ensembl	rs1057517191
geneview	rs1057517191
scholar	rs1057517191
google	rs1057517191
pharmgkb	rs1057517191
gwascentral	rs1057517191
openSNP	rs1057517191
23andMe	rs1057517191
SNPshot	rs1057517191
SNPdbe	rs1057517191
MSV3d	rs1057517191
GWAS Ctlg	rs1057517191

Max Magnitude

0

ClinVar
Risk	rs1057517191(-;-)
Alt	rs1057517191(-;-)
Reference	Rs1057517191(C;C)
Significance	Probable-Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52509048delG
CLNSRC
CLNACC	RCV000409938.1,