rs727505319
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727505319(C;C) |
Make rs727505319(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178542263 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs727505319 |
dbSNP (classic) | rs727505319 |
ClinGen | rs727505319 |
ebi | rs727505319 |
HLI | rs727505319 |
Exac | rs727505319 |
Gnomad | rs727505319 |
Varsome | rs727505319 |
LitVar | rs727505319 |
Map | rs727505319 |
PheGenI | rs727505319 |
Biobank | rs727505319 |
1000 genomes | rs727505319 |
hgdp | rs727505319 |
ensembl | rs727505319 |
geneview | rs727505319 |
scholar | rs727505319 |
rs727505319 | |
pharmgkb | rs727505319 |
gwascentral | rs727505319 |
openSNP | rs727505319 |
23andMe | rs727505319 |
SNPshot | rs727505319 |
SNPdbe | rs727505319 |
MSV3d | rs727505319 |
GWAS Ctlg | rs727505319 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505319(C;C) |
Alt | rs727505319(C;C) |
Reference | Rs727505319(G;G) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy not provided Dilated cardiomyopathy 1G |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy not provided Dilated cardiomyopathy 1G |
Reversed | 1 |
HGVS | NC_000002.11:g.179406990C>G |
CLNSRC | |
CLNACC | RCV000156861.1, RCV000184284.2, RCV000462323.1, |