rs367785431
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs367785431(A;A) |
Make rs367785431(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 201359221 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs367785431 |
dbSNP (classic) | rs367785431 |
ClinGen | rs367785431 |
ebi | rs367785431 |
HLI | rs367785431 |
Exac | rs367785431 |
Gnomad | rs367785431 |
Varsome | rs367785431 |
LitVar | rs367785431 |
Map | rs367785431 |
PheGenI | rs367785431 |
Biobank | rs367785431 |
1000 genomes | rs367785431 |
hgdp | rs367785431 |
ensembl | rs367785431 |
geneview | rs367785431 |
scholar | rs367785431 |
rs367785431 | |
pharmgkb | rs367785431 |
gwascentral | rs367785431 |
openSNP | rs367785431 |
23andMe | rs367785431 |
SNPshot | rs367785431 |
SNPdbe | rs367785431 |
MSV3d | rs367785431 |
GWAS Ctlg | rs367785431 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367785431(A;A) |
Alt | rs367785431(A;A) |
Reference | Rs367785431(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Familial hypertrophic cardiomyopathy 2 |
Variation | info |
Gene | TNNT2 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Familial hypertrophic cardiomyopathy 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.201328349G>A |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000036625.2, RCV000168978.2, RCV000201898.1, RCV000466963.1, |