rs869320739
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869320739(C;G) |
Make rs869320739(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 178546110 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs869320739 |
dbSNP (classic) | rs869320739 |
ClinGen | rs869320739 |
ebi | rs869320739 |
HLI | rs869320739 |
Exac | rs869320739 |
Gnomad | rs869320739 |
Varsome | rs869320739 |
LitVar | rs869320739 |
Map | rs869320739 |
PheGenI | rs869320739 |
Biobank | rs869320739 |
1000 genomes | rs869320739 |
hgdp | rs869320739 |
ensembl | rs869320739 |
geneview | rs869320739 |
scholar | rs869320739 |
rs869320739 | |
pharmgkb | rs869320739 |
gwascentral | rs869320739 |
openSNP | rs869320739 |
23andMe | rs869320739 |
SNPshot | rs869320739 |
SNPdbe | rs869320739 |
MSV3d | rs869320739 |
GWAS Ctlg | rs869320739 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320739(A;A) rs869320739(G;G) |
Alt | rs869320739(A;A) rs869320739(G;G) |
Reference | Rs869320739(C;C) |
Significance | Pathogenic |
Disease | Hereditary myopathy with early respiratory failure not provided not specified |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Hereditary myopathy with early respiratory failure not provided not specified |
Reversed | 1 |
HGVS | NC_000002.11:g.179410837G>C; NC_000002.11:g.179410837G>T |
CLNSRC | |
CLNACC | RCV000119020.2, RCV000255564.1, RCV000301398.2, RCV000403585.1, |