rs199526104
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199526104(C;C) |
Make rs199526104(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 14139244 |
Gene | TMEM43 |
is a | snp |
is | mentioned by |
dbSNP | rs199526104 |
dbSNP (classic) | rs199526104 |
ClinGen | rs199526104 |
ebi | rs199526104 |
HLI | rs199526104 |
Exac | rs199526104 |
Gnomad | rs199526104 |
Varsome | rs199526104 |
LitVar | rs199526104 |
Map | rs199526104 |
PheGenI | rs199526104 |
Biobank | rs199526104 |
1000 genomes | rs199526104 |
hgdp | rs199526104 |
ensembl | rs199526104 |
geneview | rs199526104 |
scholar | rs199526104 |
rs199526104 | |
pharmgkb | rs199526104 |
gwascentral | rs199526104 |
openSNP | rs199526104 |
23andMe | rs199526104 |
SNPshot | rs199526104 |
SNPdbe | rs199526104 |
MSV3d | rs199526104 |
GWAS Ctlg | rs199526104 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199526104(C;C) |
Alt | rs199526104(C;C) |
Reference | Rs199526104(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | TMEM43 |
CLNDBN | not specified Arrhythmogenic right ventricular cardiomyopathy, type 5 |
Reversed | 0 |
HGVS | NC_000003.11:g.14180744G>C |
CLNSRC | |
CLNACC | RCV000039395.3, RCV000457565.1, |