rs587782986
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAAA;CAAA) | 0 | common in clinvar |
Make rs587782986(-;-) |
Make rs587782986(-;CAAA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 178580401 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs587782986 |
dbSNP (classic) | rs587782986 |
ClinGen | rs587782986 |
ebi | rs587782986 |
HLI | rs587782986 |
Exac | rs587782986 |
Gnomad | rs587782986 |
Varsome | rs587782986 |
LitVar | rs587782986 |
Map | rs587782986 |
PheGenI | rs587782986 |
Biobank | rs587782986 |
1000 genomes | rs587782986 |
hgdp | rs587782986 |
ensembl | rs587782986 |
geneview | rs587782986 |
scholar | rs587782986 |
rs587782986 | |
pharmgkb | rs587782986 |
gwascentral | rs587782986 |
openSNP | rs587782986 |
23andMe | rs587782986 |
SNPshot | rs587782986 |
SNPdbe | rs587782986 |
MSV3d | rs587782986 |
GWAS Ctlg | rs587782986 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587782986(-;-) |
Alt | rs587782986(-;-) |
Reference | Rs587782986(CAAA;CAAA) |
Significance | Probable-Pathogenic |
Disease | Left ventricular noncompaction cardiomyopathy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Left ventricular noncompaction cardiomyopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.179445128_179445131delTTTG |
CLNSRC | |
CLNACC | RCV000143971.2, |