rs371788070
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs371788070(C;G) |
Make rs371788070(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 178562851 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs371788070 |
dbSNP (classic) | rs371788070 |
ClinGen | rs371788070 |
ebi | rs371788070 |
HLI | rs371788070 |
Exac | rs371788070 |
Gnomad | rs371788070 |
Varsome | rs371788070 |
LitVar | rs371788070 |
Map | rs371788070 |
PheGenI | rs371788070 |
Biobank | rs371788070 |
1000 genomes | rs371788070 |
hgdp | rs371788070 |
ensembl | rs371788070 |
geneview | rs371788070 |
scholar | rs371788070 |
rs371788070 | |
pharmgkb | rs371788070 |
gwascentral | rs371788070 |
openSNP | rs371788070 |
23andMe | rs371788070 |
SNPshot | rs371788070 |
SNPdbe | rs371788070 |
MSV3d | rs371788070 |
GWAS Ctlg | rs371788070 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371788070(G;G) rs371788070(T;T) |
Alt | rs371788070(G;G) rs371788070(T;T) |
Reference | Rs371788070(C;C) |
Significance | Probable-Pathogenic |
Disease | Dilated Cardiomyopathy Hereditary myopathy with early respiratory failure Myopathy Limb-Girdle Muscular Dystrophy Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Dilated Cardiomyopathy, Dominant Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J |
Reversed | 0 |
HGVS | NC_000002.11:g.179427578C>G; NC_000002.11:g.179427578C>T |
CLNSRC | Illumina |
CLNACC | RCV000267737.1, RCV000268849.1, RCV000322601.1, RCV000328564.1, RCV000363314.1, RCV000387425.1, RCV000040692.4, RCV000171313.5, RCV000466706.1, |