rs794727467
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727467(G;T) |
Make rs794727467(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 178554864 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727467 |
dbSNP (classic) | rs794727467 |
ClinGen | rs794727467 |
ebi | rs794727467 |
HLI | rs794727467 |
Exac | rs794727467 |
Gnomad | rs794727467 |
Varsome | rs794727467 |
LitVar | rs794727467 |
Map | rs794727467 |
PheGenI | rs794727467 |
Biobank | rs794727467 |
1000 genomes | rs794727467 |
hgdp | rs794727467 |
ensembl | rs794727467 |
geneview | rs794727467 |
scholar | rs794727467 |
rs794727467 | |
pharmgkb | rs794727467 |
gwascentral | rs794727467 |
openSNP | rs794727467 |
23andMe | rs794727467 |
SNPshot | rs794727467 |
SNPdbe | rs794727467 |
MSV3d | rs794727467 |
GWAS Ctlg | rs794727467 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727467(T;T) |
Alt | rs794727467(T;T) |
Reference | Rs794727467(G;G) |
Significance | Probable-Pathogenic |
Disease | Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy Myopathy Hereditary myopathy with early respiratory failure Familial hypertrophic cardiomyopathy 9 |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure Familial hypertrophic cardiomyopathy 9 |
Reversed | 1 |
HGVS | NC_000002.11:g.179419591C>A |
CLNSRC | |
CLNACC | RCV000176899.1, RCV000299640.1, RCV000348579.1, RCV000354607.1, RCV000408047.1, RCV000408057.1, |