rs193922111

minus

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

Make rs193922111(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51974375

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs193922111
dbSNP (classic)	rs193922111
ClinGen	rs193922111
ebi	rs193922111
HLI	rs193922111
Exac	rs193922111
Gnomad	rs193922111
Varsome	rs193922111
LitVar	rs193922111
Map	rs193922111
PheGenI	rs193922111
Biobank	rs193922111
1000 genomes	rs193922111
hgdp	rs193922111
ensembl	rs193922111
geneview	rs193922111
scholar	rs193922111
google	rs193922111
pharmgkb	rs193922111
gwascentral	rs193922111
openSNP	rs193922111
23andMe	rs193922111
SNPshot	rs193922111
SNPdbe	rs193922111
MSV3d	rs193922111
GWAS Ctlg	rs193922111

Max Magnitude

3

ClinVar
Risk	rs193922111(-;-)
Alt	rs193922111(-;-)
Reference	Rs193922111(T;T)
Significance	Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52548511delA
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029384.1,

[PMID 1124372] [Psychodiagnostic factors of indication for abortion].

[PMID 9311736 ] Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

[PMID 9801873] Haplotype and mutation analysis in Greek patients with Wilson disease.

[PMID 11216666] Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.

[PMID 15523622] Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

[PMID 19172127] Wilson disease in children: analysis of 57 cases.