rs4893853
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common genotype |
Make rs4893853(C;C) |
Make rs4893853(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178767769 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs4893853 |
dbSNP (classic) | rs4893853 |
ClinGen | rs4893853 |
ebi | rs4893853 |
HLI | rs4893853 |
Exac | rs4893853 |
Gnomad | rs4893853 |
Varsome | rs4893853 |
LitVar | rs4893853 |
Map | rs4893853 |
PheGenI | rs4893853 |
Biobank | rs4893853 |
1000 genomes | rs4893853 |
hgdp | rs4893853 |
ensembl | rs4893853 |
geneview | rs4893853 |
scholar | rs4893853 |
rs4893853 | |
pharmgkb | rs4893853 |
gwascentral | rs4893853 |
openSNP | rs4893853 |
23andMe | rs4893853 |
SNPshot | rs4893853 |
SNPdbe | rs4893853 |
MSV3d | rs4893853 |
GWAS Ctlg | rs4893853 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs4893853(C;C) |
Alt | rs4893853(C;C) |
Reference | Rs4893853(T;T) |
Significance | Other |
Disease | not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy Dilated Cardiomyopathy Hereditary myopathy with early respiratory failure Myopathy Limb-Girdle Muscular Dystrophy |
Variation | info |
Gene | TTN |
CLNDBN | not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.179632496T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000040917.8, RCV000242068.1, RCV000270661.1, RCV000276371.1, RCV000325661.1, RCV000331451.1, RCV000364714.1, RCV000389547.1, |