rs794729275
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794729275(C;T) |
Make rs794729275(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 178595585 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs794729275 |
dbSNP (classic) | rs794729275 |
ClinGen | rs794729275 |
ebi | rs794729275 |
HLI | rs794729275 |
Exac | rs794729275 |
Gnomad | rs794729275 |
Varsome | rs794729275 |
LitVar | rs794729275 |
Map | rs794729275 |
PheGenI | rs794729275 |
Biobank | rs794729275 |
1000 genomes | rs794729275 |
hgdp | rs794729275 |
ensembl | rs794729275 |
geneview | rs794729275 |
scholar | rs794729275 |
rs794729275 | |
pharmgkb | rs794729275 |
gwascentral | rs794729275 |
openSNP | rs794729275 |
23andMe | rs794729275 |
SNPshot | rs794729275 |
SNPdbe | rs794729275 |
MSV3d | rs794729275 |
GWAS Ctlg | rs794729275 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729275(T;T) |
Alt | rs794729275(T;T) |
Reference | Rs794729275(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided not specified Cardiovascular phenotype |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | not provided not specified Cardiovascular phenotype |
Reversed | 1 |
HGVS | NC_000002.11:g.179460312G>A |
CLNSRC | |
CLNACC | RCV000184241.2, RCV000223817.1, RCV000248842.1, |