rs886042441
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Chromosome | 2 |
Position | 178575378 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs886042441 |
dbSNP (classic) | rs886042441 |
ClinGen | rs886042441 |
ebi | rs886042441 |
HLI | rs886042441 |
Exac | rs886042441 |
Gnomad | rs886042441 |
Varsome | rs886042441 |
LitVar | rs886042441 |
Map | rs886042441 |
PheGenI | rs886042441 |
Biobank | rs886042441 |
1000 genomes | rs886042441 |
hgdp | rs886042441 |
ensembl | rs886042441 |
geneview | rs886042441 |
scholar | rs886042441 |
rs886042441 | |
pharmgkb | rs886042441 |
gwascentral | rs886042441 |
openSNP | rs886042441 |
23andMe | rs886042441 |
SNPshot | rs886042441 |
SNPdbe | rs886042441 |
MSV3d | rs886042441 |
GWAS Ctlg | rs886042441 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042441(-;-) |
Alt | rs886042441(-;-) |
Reference | Rs886042441(A;A) |
Significance | Probable-Pathogenic |
Disease | Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Myopathy Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy, type 2J |
Reversed | 0 |
HGVS | NC_000002.11:g.179440105delA |
CLNSRC | |
CLNACC | RCV000292168.1, RCV000295908.1, RCV000327340.1, RCV000349628.1, RCV000384174.1, RCV000405313.1, |