rs397517679
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397517679(-;AGAA) |
Make rs397517679(AGAA;AGAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 178576782 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs397517679 |
dbSNP (classic) | rs397517679 |
ClinGen | rs397517679 |
ebi | rs397517679 |
HLI | rs397517679 |
Exac | rs397517679 |
Gnomad | rs397517679 |
Varsome | rs397517679 |
LitVar | rs397517679 |
Map | rs397517679 |
PheGenI | rs397517679 |
Biobank | rs397517679 |
1000 genomes | rs397517679 |
hgdp | rs397517679 |
ensembl | rs397517679 |
geneview | rs397517679 |
scholar | rs397517679 |
rs397517679 | |
pharmgkb | rs397517679 |
gwascentral | rs397517679 |
openSNP | rs397517679 |
23andMe | rs397517679 |
SNPshot | rs397517679 |
SNPdbe | rs397517679 |
MSV3d | rs397517679 |
GWAS Ctlg | rs397517679 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517679(AGAA;AGAA) |
Alt | rs397517679(AGAA;AGAA) |
Reference | Rs397517679(-;-) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.179441510_179441513dupTTCT |
CLNSRC | ClinVar |
CLNACC | RCV000040543.2, |