rs121907992

Orientation

minus

Stabilized

minus

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

Make rs121907992(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51937583

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs121907992
dbSNP (classic)	rs121907992
ClinGen	rs121907992
ebi	rs121907992
HLI	rs121907992
Exac	rs121907992
Gnomad	rs121907992
Varsome	rs121907992
LitVar	rs121907992
Map	rs121907992
PheGenI	rs121907992
Biobank	rs121907992
1000 genomes	rs121907992
hgdp	rs121907992
ensembl	rs121907992
geneview	rs121907992
scholar	rs121907992
google	rs121907992
pharmgkb	rs121907992
gwascentral	rs121907992
openSNP	rs121907992
23andMe	rs121907992
SNPshot	rs121907992
SNPdbe	rs121907992
MSV3d	rs121907992
GWAS Ctlg	rs121907992

Max Magnitude

3

OMIM	606882
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121907992(A;A)
Alt	rs121907992(A;A)
Reference	Rs121907992(G;G)
Significance	Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52511719C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004053.3,