rs193922103

minus

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

Make rs193922103(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51958361

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs193922103
dbSNP (classic)	rs193922103
ClinGen	rs193922103
ebi	rs193922103
HLI	rs193922103
Exac	rs193922103
Gnomad	rs193922103
Varsome	rs193922103
LitVar	rs193922103
Map	rs193922103
PheGenI	rs193922103
Biobank	rs193922103
1000 genomes	rs193922103
hgdp	rs193922103
ensembl	rs193922103
geneview	rs193922103
scholar	rs193922103
google	rs193922103
pharmgkb	rs193922103
gwascentral	rs193922103
openSNP	rs193922103
23andMe	rs193922103
SNPshot	rs193922103
SNPdbe	rs193922103
MSV3d	rs193922103
GWAS Ctlg	rs193922103

Max Magnitude

3

ClinVar
Risk	rs193922103(G;G)
Alt	rs193922103(G;G)
Reference	Rs193922103(A;A)
Significance	Pathogenic
Disease	Wilson disease not provided not specified
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not provided not specified
Reversed	1
HGVS	NC_000013.10:g.52532497T>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000029355.3, RCV000078041.4, RCV000145261.1,

[PMID 169394 ] Denaturation map of polyoma DNA.

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

[PMID 10942420] Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

[PMID 11405812] Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

[PMID 14986826] Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

[PMID 19118915] Genotype-phenotype correlation in Italian children with Wilson's disease.