rs727503499
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503499(C;T) |
Make rs727503499(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 55151893 |
Gene | TNNI3 |
is a | snp |
is | mentioned by |
dbSNP | rs727503499 |
dbSNP (classic) | rs727503499 |
ClinGen | rs727503499 |
ebi | rs727503499 |
HLI | rs727503499 |
Exac | rs727503499 |
Gnomad | rs727503499 |
Varsome | rs727503499 |
LitVar | rs727503499 |
Map | rs727503499 |
PheGenI | rs727503499 |
Biobank | rs727503499 |
1000 genomes | rs727503499 |
hgdp | rs727503499 |
ensembl | rs727503499 |
geneview | rs727503499 |
scholar | rs727503499 |
rs727503499 | |
pharmgkb | rs727503499 |
gwascentral | rs727503499 |
openSNP | rs727503499 |
23andMe | rs727503499 |
SNPshot | rs727503499 |
SNPdbe | rs727503499 |
MSV3d | rs727503499 |
GWAS Ctlg | rs727503499 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503499(T;T) |
Alt | rs727503499(T;T) |
Reference | Rs727503499(C;C) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | TNNI3 |
CLNDBN | Cardiomyopathy |
Reversed | 1 |
HGVS | NC_000019.9:g.55663261G>A |
CLNSRC | |
CLNACC | RCV000152072.1, |