rs869312116
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869312116(-;AACA) |
Make rs869312116(AACA;AACA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 178571248 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312116 |
dbSNP (classic) | rs869312116 |
ClinGen | rs869312116 |
ebi | rs869312116 |
HLI | rs869312116 |
Exac | rs869312116 |
Gnomad | rs869312116 |
Varsome | rs869312116 |
LitVar | rs869312116 |
Map | rs869312116 |
PheGenI | rs869312116 |
Biobank | rs869312116 |
1000 genomes | rs869312116 |
hgdp | rs869312116 |
ensembl | rs869312116 |
geneview | rs869312116 |
scholar | rs869312116 |
rs869312116 | |
pharmgkb | rs869312116 |
gwascentral | rs869312116 |
openSNP | rs869312116 |
23andMe | rs869312116 |
SNPshot | rs869312116 |
SNPdbe | rs869312116 |
MSV3d | rs869312116 |
GWAS Ctlg | rs869312116 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312116(AACA;AACA) |
Alt | rs869312116(AACA;AACA) |
Reference | Rs869312116(-;-) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.179435976_179435979dupTGTT |
CLNSRC | |
CLNACC | RCV000209160.1, |