Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922103(A;G)
Make rs193922103(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51958361
GeneATP7B
is asnp
is mentioned by
dbSNPrs193922103
ebirs193922103
HLIrs193922103
Exacrs193922103
Varsomers193922103
Maprs193922103
PheGenIrs193922103
hapmaprs193922103
1000 genomesrs193922103
hgdprs193922103
ensemblrs193922103
gopubmedrs193922103
geneviewrs193922103
scholarrs193922103
googlers193922103
pharmgkbrs193922103
gwascentralrs193922103
openSNPrs193922103
23andMers193922103
23andMe allrs193922103
SNP Nexus

SNPshotrs193922103
SNPdbers193922103
MSV3drs193922103
GWAS Ctlgrs193922103
Max Magnitude0
ClinVar
Risk rs193922103(G;G)
Alt rs193922103(G;G)
Reference rs193922103(A;A)
Significance Pathogenic
Disease Wilson's disease not provided not specified
Variation info
Gene ATP7B
CLNDBN Wilson's disease not provided not specified
Reversed 1
HGVS NC_000013.10:g.52532497T>C
CLNSRC HGMD
CLNACC RCV000029355.2, RCV000078041.3, RCV000145261.1,


[PMID 169394OA-icon.png] Denaturation map of polyoma DNA.


[PMID 9311736OA-icon.png] 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.