rs730881119
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs730881119(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 201359629 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs730881119 |
dbSNP (classic) | rs730881119 |
ClinGen | rs730881119 |
ebi | rs730881119 |
HLI | rs730881119 |
Exac | rs730881119 |
Gnomad | rs730881119 |
Varsome | rs730881119 |
LitVar | rs730881119 |
Map | rs730881119 |
PheGenI | rs730881119 |
Biobank | rs730881119 |
1000 genomes | rs730881119 |
hgdp | rs730881119 |
ensembl | rs730881119 |
geneview | rs730881119 |
scholar | rs730881119 |
rs730881119 | |
pharmgkb | rs730881119 |
gwascentral | rs730881119 |
openSNP | rs730881119 |
23andMe | rs730881119 |
SNPshot | rs730881119 |
SNPdbe | rs730881119 |
MSV3d | rs730881119 |
GWAS Ctlg | rs730881119 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs730881119(C;C) |
Alt | rs730881119(C;C) |
Reference | Rs730881119(-;-) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | TNNT2 |
CLNDBN | Cardiomyopathy |
Reversed | 1 |
HGVS | NC_000001.10:g.201328758dupG |
CLNSRC | |
CLNACC | RCV000159334.1, |