rs727505076
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCG;GCG) | 0 | common in clinvar |
Make rs727505076(GCG;TAAGTGGGTGTGA) |
Make rs727505076(TAAGTGGGTGTGA;TAAGTGGGTGTGA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178551188 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs727505076 |
dbSNP (classic) | rs727505076 |
ClinGen | rs727505076 |
ebi | rs727505076 |
HLI | rs727505076 |
Exac | rs727505076 |
Gnomad | rs727505076 |
Varsome | rs727505076 |
LitVar | rs727505076 |
Map | rs727505076 |
PheGenI | rs727505076 |
Biobank | rs727505076 |
1000 genomes | rs727505076 |
hgdp | rs727505076 |
ensembl | rs727505076 |
geneview | rs727505076 |
scholar | rs727505076 |
rs727505076 | |
pharmgkb | rs727505076 |
gwascentral | rs727505076 |
openSNP | rs727505076 |
23andMe | rs727505076 |
SNPshot | rs727505076 |
SNPdbe | rs727505076 |
MSV3d | rs727505076 |
GWAS Ctlg | rs727505076 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505076(TAAGTGGGTGTGA;TAAGTGGGTGTGA) |
Alt | rs727505076(TAAGTGGGTGTGA;TAAGTGGGTGTGA) |
Reference | Rs727505076(GCG;GCG) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Primary dilated cardiomyopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.179415915_179415917delinsTCACACCCACTTA |
CLNSRC | |
CLNACC | RCV000156516.1, |