rs730881071
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730881071(C;T) |
Make rs730881071(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 55154158 |
Gene | TNNI3 |
is a | snp |
is | mentioned by |
dbSNP | rs730881071 |
dbSNP (classic) | rs730881071 |
ClinGen | rs730881071 |
ebi | rs730881071 |
HLI | rs730881071 |
Exac | rs730881071 |
Gnomad | rs730881071 |
Varsome | rs730881071 |
LitVar | rs730881071 |
Map | rs730881071 |
PheGenI | rs730881071 |
Biobank | rs730881071 |
1000 genomes | rs730881071 |
hgdp | rs730881071 |
ensembl | rs730881071 |
geneview | rs730881071 |
scholar | rs730881071 |
rs730881071 | |
pharmgkb | rs730881071 |
gwascentral | rs730881071 |
openSNP | rs730881071 |
23andMe | rs730881071 |
SNPshot | rs730881071 |
SNPdbe | rs730881071 |
MSV3d | rs730881071 |
GWAS Ctlg | rs730881071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881071(T;T) |
Alt | rs730881071(T;T) |
Reference | Rs730881071(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Hypertrophic cardiomyopathy |
Variation | info |
Gene | TNNI3 |
CLNDBN | not provided Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000019.9:g.55665526G>A |
CLNSRC | |
CLNACC | RCV000159219.2, RCV000473123.1, |