rs780512337
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs780512337(A;A) |
Make rs780512337(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 178565638 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs780512337 |
dbSNP (classic) | rs780512337 |
ClinGen | rs780512337 |
ebi | rs780512337 |
HLI | rs780512337 |
Exac | rs780512337 |
Gnomad | rs780512337 |
Varsome | rs780512337 |
LitVar | rs780512337 |
Map | rs780512337 |
PheGenI | rs780512337 |
Biobank | rs780512337 |
1000 genomes | rs780512337 |
hgdp | rs780512337 |
ensembl | rs780512337 |
geneview | rs780512337 |
scholar | rs780512337 |
rs780512337 | |
pharmgkb | rs780512337 |
gwascentral | rs780512337 |
openSNP | rs780512337 |
23andMe | rs780512337 |
SNPshot | rs780512337 |
SNPdbe | rs780512337 |
MSV3d | rs780512337 |
GWAS Ctlg | rs780512337 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780512337(A;A) rs780512337(T;T) |
Alt | rs780512337(A;A) rs780512337(T;T) |
Reference | Rs780512337(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy not provided |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.179430365C>A |
CLNSRC | |
CLNACC | RCV000220480.1, RCV000480047.1, |