rs886043718
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TACA;TACA) | 0 | common in clinvar |
Chromosome | 2 |
Position | 178609961 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs886043718 |
dbSNP (classic) | rs886043718 |
ClinGen | rs886043718 |
ebi | rs886043718 |
HLI | rs886043718 |
Exac | rs886043718 |
Gnomad | rs886043718 |
Varsome | rs886043718 |
LitVar | rs886043718 |
Map | rs886043718 |
PheGenI | rs886043718 |
Biobank | rs886043718 |
1000 genomes | rs886043718 |
hgdp | rs886043718 |
ensembl | rs886043718 |
geneview | rs886043718 |
scholar | rs886043718 |
rs886043718 | |
pharmgkb | rs886043718 |
gwascentral | rs886043718 |
openSNP | rs886043718 |
23andMe | rs886043718 |
SNPshot | rs886043718 |
SNPdbe | rs886043718 |
MSV3d | rs886043718 |
GWAS Ctlg | rs886043718 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043718(-;-) |
Alt | rs886043718(-;-) |
Reference | Rs886043718(TACA;TACA) |
Significance | Probable-Pathogenic |
Disease | Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy Familial hypertrophic cardiomyopathy 9 Distal myopathy Markesbery-Griggs type Dilated cardiomyopathy 1G Myopathy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy, type 2J Familial hypertrophic cardiomyopathy 9 Distal myopathy Markesbery-Griggs type Dilated cardiomyopathy 1G Myopathy, early-onset, with fatal cardiomyopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.179474688_179474691delTACA |
CLNSRC | |
CLNACC | RCV000259741.1, RCV000293832.1, RCV000329628.1, RCV000333676.1, RCV000354357.1, RCV000388060.1, |