rs794729320
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794729320(-;-) |
Make rs794729320(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 178614651 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs794729320 |
dbSNP (classic) | rs794729320 |
ClinGen | rs794729320 |
ebi | rs794729320 |
HLI | rs794729320 |
Exac | rs794729320 |
Gnomad | rs794729320 |
Varsome | rs794729320 |
LitVar | rs794729320 |
Map | rs794729320 |
PheGenI | rs794729320 |
Biobank | rs794729320 |
1000 genomes | rs794729320 |
hgdp | rs794729320 |
ensembl | rs794729320 |
geneview | rs794729320 |
scholar | rs794729320 |
rs794729320 | |
pharmgkb | rs794729320 |
gwascentral | rs794729320 |
openSNP | rs794729320 |
23andMe | rs794729320 |
SNPshot | rs794729320 |
SNPdbe | rs794729320 |
MSV3d | rs794729320 |
GWAS Ctlg | rs794729320 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729320(-;-) |
Alt | rs794729320(-;-) |
Reference | Rs794729320(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Primary dilated cardiomyopathy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | not provided Primary dilated cardiomyopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.179479378delG |
CLNSRC | |
CLNACC | RCV000184307.1, RCV000208189.1, |