rs748369265
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs748369265(C;T) |
Make rs748369265(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 178601788 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs748369265 |
dbSNP (classic) | rs748369265 |
ClinGen | rs748369265 |
ebi | rs748369265 |
HLI | rs748369265 |
Exac | rs748369265 |
Gnomad | rs748369265 |
Varsome | rs748369265 |
LitVar | rs748369265 |
Map | rs748369265 |
PheGenI | rs748369265 |
Biobank | rs748369265 |
1000 genomes | rs748369265 |
hgdp | rs748369265 |
ensembl | rs748369265 |
geneview | rs748369265 |
scholar | rs748369265 |
rs748369265 | |
pharmgkb | rs748369265 |
gwascentral | rs748369265 |
openSNP | rs748369265 |
23andMe | rs748369265 |
SNPshot | rs748369265 |
SNPdbe | rs748369265 |
MSV3d | rs748369265 |
GWAS Ctlg | rs748369265 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748369265(T;T) |
Alt | rs748369265(T;T) |
Reference | Rs748369265(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.179466515C>T |
CLNSRC | |
CLNACC | RCV000208956.1, |