rs121908001

Orientation

minus

Stabilized

minus

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

Make rs121908001(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51960198

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs121908001
dbSNP (classic)	rs121908001
ClinGen	rs121908001
ebi	rs121908001
HLI	rs121908001
Exac	rs121908001
Gnomad	rs121908001
Varsome	rs121908001
LitVar	rs121908001
Map	rs121908001
PheGenI	rs121908001
Biobank	rs121908001
1000 genomes	rs121908001
hgdp	rs121908001
ensembl	rs121908001
geneview	rs121908001
scholar	rs121908001
google	rs121908001
pharmgkb	rs121908001
gwascentral	rs121908001
openSNP	rs121908001
23andMe	rs121908001
SNPshot	rs121908001
SNPdbe	rs121908001
MSV3d	rs121908001
GWAS Ctlg	rs121908001

Max Magnitude

3

OMIM	606882
Desc
Variant	0024
Related	also

ClinVar
Risk	rs121908001(A;A)
Alt	rs121908001(A;A)
Reference	Rs121908001(G;G)
Significance	Other
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52534334C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004070.6,