rs121907996

Orientation

minus

Stabilized

minus

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

Make rs121907996(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51946438

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs121907996
dbSNP (classic)	rs121907996
ClinGen	rs121907996
ebi	rs121907996
HLI	rs121907996
Exac	rs121907996
Gnomad	rs121907996
Varsome	rs121907996
LitVar	rs121907996
Map	rs121907996
PheGenI	rs121907996
Biobank	rs121907996
1000 genomes	rs121907996
hgdp	rs121907996
ensembl	rs121907996
geneview	rs121907996
scholar	rs121907996
google	rs121907996
pharmgkb	rs121907996
gwascentral	rs121907996
openSNP	rs121907996
23andMe	rs121907996
SNPshot	rs121907996
SNPdbe	rs121907996
MSV3d	rs121907996
GWAS Ctlg	rs121907996

Max Magnitude

3

aka c.2906G>A (p.Arg969Gln or R969Q)

OMIM	606882
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121907996(A;A)
Alt	rs121907996(A;A)
Reference	Rs121907996(G;G)
Significance	Pathogenic
Disease	Wilson disease not provided
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not provided
Reversed	1
HGVS	NC_000013.10:g.52520574C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004064.2, RCV000270891.1,