rs727503547
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503547(C;TCTAGCAG) |
Make rs727503547(TCTAGCAG;TCTAGCAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178547446 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs727503547 |
dbSNP (classic) | rs727503547 |
ClinGen | rs727503547 |
ebi | rs727503547 |
HLI | rs727503547 |
Exac | rs727503547 |
Gnomad | rs727503547 |
Varsome | rs727503547 |
LitVar | rs727503547 |
Map | rs727503547 |
PheGenI | rs727503547 |
Biobank | rs727503547 |
1000 genomes | rs727503547 |
hgdp | rs727503547 |
ensembl | rs727503547 |
geneview | rs727503547 |
scholar | rs727503547 |
rs727503547 | |
pharmgkb | rs727503547 |
gwascentral | rs727503547 |
openSNP | rs727503547 |
23andMe | rs727503547 |
SNPshot | rs727503547 |
SNPdbe | rs727503547 |
MSV3d | rs727503547 |
GWAS Ctlg | rs727503547 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503547(TCTAGCAG;TCTAGCAG) |
Alt | rs727503547(TCTAGCAG;TCTAGCAG) |
Reference | Rs727503547(C;C) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy not provided |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.179412173delinsCTGCTAGA |
CLNSRC | |
CLNACC | RCV000152184.1, RCV000184361.2, |