rs193922706
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922706(C;G) |
Make rs193922706(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 14141742 |
Gene | TMEM43 |
is a | snp |
is | mentioned by |
dbSNP | rs193922706 |
dbSNP (classic) | rs193922706 |
ClinGen | rs193922706 |
ebi | rs193922706 |
HLI | rs193922706 |
Exac | rs193922706 |
Gnomad | rs193922706 |
Varsome | rs193922706 |
LitVar | rs193922706 |
Map | rs193922706 |
PheGenI | rs193922706 |
Biobank | rs193922706 |
1000 genomes | rs193922706 |
hgdp | rs193922706 |
ensembl | rs193922706 |
geneview | rs193922706 |
scholar | rs193922706 |
rs193922706 | |
pharmgkb | rs193922706 |
gwascentral | rs193922706 |
openSNP | rs193922706 |
23andMe | rs193922706 |
SNPshot | rs193922706 |
SNPdbe | rs193922706 |
MSV3d | rs193922706 |
GWAS Ctlg | rs193922706 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922706(G;G) rs193922706(T;T) |
Alt | rs193922706(G;G) rs193922706(T;T) |
Reference | Rs193922706(C;C) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | TMEM43 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 0 |
HGVS | NC_000003.11:g.14183242C>G |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030552.1, |