rs121908000

Orientation

minus

Stabilized

minus

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

Make rs121908000(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51958543

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs121908000
dbSNP (classic)	rs121908000
ClinGen	rs121908000
ebi	rs121908000
HLI	rs121908000
Exac	rs121908000
Gnomad	rs121908000
Varsome	rs121908000
LitVar	rs121908000
Map	rs121908000
PheGenI	rs121908000
Biobank	rs121908000
1000 genomes	rs121908000
hgdp	rs121908000
ensembl	rs121908000
geneview	rs121908000
scholar	rs121908000
google	rs121908000
pharmgkb	rs121908000
gwascentral	rs121908000
openSNP	rs121908000
23andMe	rs121908000
SNPshot	rs121908000
SNPdbe	rs121908000
MSV3d	rs121908000
GWAS Ctlg	rs121908000

Max Magnitude

3

OMIM	606882
Desc
Variant	0023
Related	also

ClinVar
Risk	rs121908000(C;C)
Alt	rs121908000(C;C)
Reference	Rs121908000(T;T)
Significance	Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52532679A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004069.4,