rs17355446
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs17355446(A;A) |
Make rs17355446(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 178724514 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs17355446 |
dbSNP (classic) | rs17355446 |
ClinGen | rs17355446 |
ebi | rs17355446 |
HLI | rs17355446 |
Exac | rs17355446 |
Gnomad | rs17355446 |
Varsome | rs17355446 |
LitVar | rs17355446 |
Map | rs17355446 |
PheGenI | rs17355446 |
Biobank | rs17355446 |
1000 genomes | rs17355446 |
hgdp | rs17355446 |
ensembl | rs17355446 |
geneview | rs17355446 |
scholar | rs17355446 |
rs17355446 | |
pharmgkb | rs17355446 |
gwascentral | rs17355446 |
openSNP | rs17355446 |
23andMe | rs17355446 |
SNPshot | rs17355446 |
SNPdbe | rs17355446 |
MSV3d | rs17355446 |
GWAS Ctlg | rs17355446 |
GMAF | 0.02847 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs17355446(A;A) |
Alt | rs17355446(A;A) |
Reference | Rs17355446(G;G) |
Significance | Other |
Disease | not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure Myopathy Dilated Cardiomyopathy Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy |
Variation | info |
Gene | TTN |
CLNDBN | not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.179589241G>A |
CLNSRC | ClinVar GeneDx University of Chicago |
CLNACC | RCV000039947.8, RCV000253741.1, RCV000291382.1, RCV000313861.1, RCV000348985.1, RCV000370842.1, RCV000398755.1, RCV000400666.1, |