rs121907999

Orientation

minus

Stabilized

minus

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

Make rs121907999(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51974355

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs121907999
dbSNP (classic)	rs121907999
ClinGen	rs121907999
ebi	rs121907999
HLI	rs121907999
Exac	rs121907999
Gnomad	rs121907999
Varsome	rs121907999
LitVar	rs121907999
Map	rs121907999
PheGenI	rs121907999
Biobank	rs121907999
1000 genomes	rs121907999
hgdp	rs121907999
ensembl	rs121907999
geneview	rs121907999
scholar	rs121907999
google	rs121907999
pharmgkb	rs121907999
gwascentral	rs121907999
openSNP	rs121907999
23andMe	rs121907999
SNPshot	rs121907999
SNPdbe	rs121907999
MSV3d	rs121907999
GWAS Ctlg	rs121907999

Max Magnitude

3

OMIM	606882
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121907999(T;T)
Alt	rs121907999(T;T)
Reference	Rs121907999(C;C)
Significance	Other
Disease	Wilson disease not provided
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not provided
Reversed	1
HGVS	NC_000013.10:g.52548491G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004068.6, RCV000421016.1,