rs730881083
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs730881083(A;C) |
Make rs730881083(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 55151841 |
Gene | TNNI3 |
is a | snp |
is | mentioned by |
dbSNP | rs730881083 |
dbSNP (classic) | rs730881083 |
ClinGen | rs730881083 |
ebi | rs730881083 |
HLI | rs730881083 |
Exac | rs730881083 |
Gnomad | rs730881083 |
Varsome | rs730881083 |
LitVar | rs730881083 |
Map | rs730881083 |
PheGenI | rs730881083 |
Biobank | rs730881083 |
1000 genomes | rs730881083 |
hgdp | rs730881083 |
ensembl | rs730881083 |
geneview | rs730881083 |
scholar | rs730881083 |
rs730881083 | |
pharmgkb | rs730881083 |
gwascentral | rs730881083 |
openSNP | rs730881083 |
23andMe | rs730881083 |
SNPshot | rs730881083 |
SNPdbe | rs730881083 |
MSV3d | rs730881083 |
GWAS Ctlg | rs730881083 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881083(C;C) |
Alt | rs730881083(C;C) |
Reference | Rs730881083(A;A) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | TNNI3 |
CLNDBN | Cardiomyopathy |
Reversed | 1 |
HGVS | NC_000019.9:g.55663209T>G |
CLNSRC | |
CLNACC | RCV000159253.1, |