rs778127887
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
Make rs778127887(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 14141613 |
Gene | TMEM43 |
is a | snp |
is | mentioned by |
dbSNP | rs778127887 |
dbSNP (classic) | rs778127887 |
ClinGen | rs778127887 |
ebi | rs778127887 |
HLI | rs778127887 |
Exac | rs778127887 |
Gnomad | rs778127887 |
Varsome | rs778127887 |
LitVar | rs778127887 |
Map | rs778127887 |
PheGenI | rs778127887 |
Biobank | rs778127887 |
1000 genomes | rs778127887 |
hgdp | rs778127887 |
ensembl | rs778127887 |
geneview | rs778127887 |
scholar | rs778127887 |
rs778127887 | |
pharmgkb | rs778127887 |
gwascentral | rs778127887 |
openSNP | rs778127887 |
23andMe | rs778127887 |
SNPshot | rs778127887 |
SNPdbe | rs778127887 |
MSV3d | rs778127887 |
GWAS Ctlg | rs778127887 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs778127887(T;T) |
Alt | rs778127887(T;T) |
Reference | Rs778127887(C;C) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | TMEM43 |
CLNDBN | Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000003.11:g.14183113C>T |
CLNSRC | |
CLNACC | RCV000201506.1, |