rs869038795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869038795(A;A) |
Make rs869038795(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 178565095 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs869038795 |
dbSNP (classic) | rs869038795 |
ClinGen | rs869038795 |
ebi | rs869038795 |
HLI | rs869038795 |
Exac | rs869038795 |
Gnomad | rs869038795 |
Varsome | rs869038795 |
LitVar | rs869038795 |
Map | rs869038795 |
PheGenI | rs869038795 |
Biobank | rs869038795 |
1000 genomes | rs869038795 |
hgdp | rs869038795 |
ensembl | rs869038795 |
geneview | rs869038795 |
scholar | rs869038795 |
rs869038795 | |
pharmgkb | rs869038795 |
gwascentral | rs869038795 |
openSNP | rs869038795 |
23andMe | rs869038795 |
SNPshot | rs869038795 |
SNPdbe | rs869038795 |
MSV3d | rs869038795 |
GWAS Ctlg | rs869038795 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869038795(A;A) |
Alt | rs869038795(A;A) |
Reference | Rs869038795(G;G) |
Significance | Pathogenic |
Disease | not provided Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy Dilated cardiomyopathy 1G Familial hypertrophic cardiomyopathy 9 Myopathy Hereditary myopathy with early respiratory failure |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | not provided Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy, type 2J Dilated cardiomyopathy 1G Familial hypertrophic cardiomyopathy 9 Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure |
Reversed | 0 |
HGVS | NC_000002.11:g.179429822G>A |
CLNSRC | |
CLNACC | RCV000256162.2, RCV000279826.1, RCV000284470.1, RCV000328725.1, RCV000341704.1, RCV000376608.1, RCV000380000.1, |