rs193922110

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs193922110(A;A)

Make rs193922110(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51935659

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs193922110
dbSNP (classic)	rs193922110
ClinGen	rs193922110
ebi	rs193922110
HLI	rs193922110
Exac	rs193922110
Gnomad	rs193922110
Varsome	rs193922110
LitVar	rs193922110
Map	rs193922110
PheGenI	rs193922110
Biobank	rs193922110
1000 genomes	rs193922110
hgdp	rs193922110
ensembl	rs193922110
geneview	rs193922110
scholar	rs193922110
google	rs193922110
pharmgkb	rs193922110
gwascentral	rs193922110
openSNP	rs193922110
23andMe	rs193922110
SNPshot	rs193922110
SNPdbe	rs193922110
MSV3d	rs193922110
GWAS Ctlg	rs193922110

Max Magnitude

0

ClinVar
Risk	rs193922110(A;A) rs193922110(C;C)
Alt	rs193922110(A;A) rs193922110(C;C)
Reference	Rs193922110(G;G)
Significance	Probable-Pathogenic
Disease	Wilson disease not provided
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not provided
Reversed	1
HGVS	NC_000013.10:g.52509795C>T
CLNSRC	ClinVar
CLNACC	RCV000029378.2, RCV000415977.1,

[PMID 10502777] A study of Wilson disease mutations in Britain.