rs574660186
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs574660186(A;A) |
Make rs574660186(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178579702 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs574660186 |
dbSNP (classic) | rs574660186 |
ClinGen | rs574660186 |
ebi | rs574660186 |
HLI | rs574660186 |
Exac | rs574660186 |
Gnomad | rs574660186 |
Varsome | rs574660186 |
LitVar | rs574660186 |
Map | rs574660186 |
PheGenI | rs574660186 |
Biobank | rs574660186 |
1000 genomes | rs574660186 |
hgdp | rs574660186 |
ensembl | rs574660186 |
geneview | rs574660186 |
scholar | rs574660186 |
rs574660186 | |
pharmgkb | rs574660186 |
gwascentral | rs574660186 |
openSNP | rs574660186 |
23andMe | rs574660186 |
SNPshot | rs574660186 |
SNPdbe | rs574660186 |
MSV3d | rs574660186 |
GWAS Ctlg | rs574660186 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs574660186(A;A) |
Alt | rs574660186(A;A) |
Reference | Rs574660186(G;G) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy not provided Myopathy Dilated cardiomyopathy 1G Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy not provided Myopathy, early-onset, with fatal cardiomyopathy Dilated cardiomyopathy 1G Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy, type 2J Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 |
Reversed | 0 |
HGVS | NC_000002.11:g.179444429G>A |
CLNSRC | |
CLNACC | RCV000157564.1, RCV000255593.1, RCV000271179.2, RCV000274538.2, RCV000310934.2, RCV000314656.2, RCV000365657.2, RCV000369320.2, |