rs863225119
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs863225119(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 201359632 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs863225119 |
dbSNP (classic) | rs863225119 |
ClinGen | rs863225119 |
ebi | rs863225119 |
HLI | rs863225119 |
Exac | rs863225119 |
Gnomad | rs863225119 |
Varsome | rs863225119 |
LitVar | rs863225119 |
Map | rs863225119 |
PheGenI | rs863225119 |
Biobank | rs863225119 |
1000 genomes | rs863225119 |
hgdp | rs863225119 |
ensembl | rs863225119 |
geneview | rs863225119 |
scholar | rs863225119 |
rs863225119 | |
pharmgkb | rs863225119 |
gwascentral | rs863225119 |
openSNP | rs863225119 |
23andMe | rs863225119 |
SNPshot | rs863225119 |
SNPdbe | rs863225119 |
MSV3d | rs863225119 |
GWAS Ctlg | rs863225119 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs863225119(T;T) |
Alt | rs863225119(T;T) |
Reference | Rs863225119(A;A) |
Significance | Probable-Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 2 |
Variation | info |
Gene | TNNT2 |
CLNDBN | Familial hypertrophic cardiomyopathy 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.201328760T>A |
CLNSRC | |
CLNACC | RCV000201488.1, |