rs193922104

Orientation

minus

Stabilized

minus

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

Make rs193922104(C;C)

Make rs193922104(C;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51946391

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs193922104
dbSNP (classic)	rs193922104
ClinGen	rs193922104
ebi	rs193922104
HLI	rs193922104
Exac	rs193922104
Gnomad	rs193922104
Varsome	rs193922104
LitVar	rs193922104
Map	rs193922104
PheGenI	rs193922104
Biobank	rs193922104
1000 genomes	rs193922104
hgdp	rs193922104
ensembl	rs193922104
geneview	rs193922104
scholar	rs193922104
google	rs193922104
pharmgkb	rs193922104
gwascentral	rs193922104
openSNP	rs193922104
23andMe	rs193922104
SNPshot	rs193922104
SNPdbe	rs193922104
MSV3d	rs193922104
GWAS Ctlg	rs193922104

Max Magnitude

0

ClinVar
Risk	rs193922104(C;C)
Alt	rs193922104(C;C)
Reference	Rs193922104(T;T)
Significance	Probable-Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52520527A>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029360.1,