rs200797552
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common genotype |
Make rs200797552(C;T) |
Make rs200797552(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 178578078 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs200797552 |
dbSNP (classic) | rs200797552 |
ClinGen | rs200797552 |
ebi | rs200797552 |
HLI | rs200797552 |
Exac | rs200797552 |
Gnomad | rs200797552 |
Varsome | rs200797552 |
LitVar | rs200797552 |
Map | rs200797552 |
PheGenI | rs200797552 |
Biobank | rs200797552 |
1000 genomes | rs200797552 |
hgdp | rs200797552 |
ensembl | rs200797552 |
geneview | rs200797552 |
scholar | rs200797552 |
rs200797552 | |
pharmgkb | rs200797552 |
gwascentral | rs200797552 |
openSNP | rs200797552 |
23andMe | rs200797552 |
SNPshot | rs200797552 |
SNPdbe | rs200797552 |
MSV3d | rs200797552 |
GWAS Ctlg | rs200797552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200797552(A;A) rs200797552(T;T) |
Alt | rs200797552(A;A) rs200797552(T;T) |
Reference | Rs200797552(C;C) |
Significance | Other |
Disease | Primary dilated cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Myopathy Dilated Cardiomyopathy Hypertrophic cardiomyopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Myopathy, early-onset, with fatal cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy, Recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.179442805C>A; NC_000002.11:g.179442805C>T |
CLNSRC | Illumina |
CLNACC | RCV000208381.1, RCV000154926.1, RCV000172272.3, RCV000234385.2, RCV000248442.1, RCV000261085.1, RCV000262197.1, RCV000316255.1, RCV000322486.1, RCV000370118.1, RCV000375502.1, |