rs763822931
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs763822931(C;T) |
Make rs763822931(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178566970 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs763822931 |
dbSNP (classic) | rs763822931 |
ClinGen | rs763822931 |
ebi | rs763822931 |
HLI | rs763822931 |
Exac | rs763822931 |
Gnomad | rs763822931 |
Varsome | rs763822931 |
LitVar | rs763822931 |
Map | rs763822931 |
PheGenI | rs763822931 |
Biobank | rs763822931 |
1000 genomes | rs763822931 |
hgdp | rs763822931 |
ensembl | rs763822931 |
geneview | rs763822931 |
scholar | rs763822931 |
rs763822931 | |
pharmgkb | rs763822931 |
gwascentral | rs763822931 |
openSNP | rs763822931 |
23andMe | rs763822931 |
SNPshot | rs763822931 |
SNPdbe | rs763822931 |
MSV3d | rs763822931 |
GWAS Ctlg | rs763822931 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763822931(A;A) rs763822931(T;T) |
Alt | rs763822931(A;A) rs763822931(T;T) |
Reference | Rs763822931(C;C) |
Significance | Probable-Pathogenic |
Disease | Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Myopathy Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy, type 2J |
Reversed | 0 |
HGVS | NC_000002.11:g.179431697C>A |
CLNSRC | |
CLNACC | RCV000176816.1, RCV000295298.1, RCV000326361.1, RCV000331504.1, RCV000381037.1, RCV000386135.1, |