rs147879266
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs147879266(C;T) |
Make rs147879266(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 178738114 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs147879266 |
dbSNP (classic) | rs147879266 |
ClinGen | rs147879266 |
ebi | rs147879266 |
HLI | rs147879266 |
Exac | rs147879266 |
Gnomad | rs147879266 |
Varsome | rs147879266 |
LitVar | rs147879266 |
Map | rs147879266 |
PheGenI | rs147879266 |
Biobank | rs147879266 |
1000 genomes | rs147879266 |
hgdp | rs147879266 |
ensembl | rs147879266 |
geneview | rs147879266 |
scholar | rs147879266 |
rs147879266 | |
pharmgkb | rs147879266 |
gwascentral | rs147879266 |
openSNP | rs147879266 |
23andMe | rs147879266 |
SNPshot | rs147879266 |
SNPdbe | rs147879266 |
MSV3d | rs147879266 |
GWAS Ctlg | rs147879266 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147879266(T;T) |
Alt | rs147879266(T;T) |
Reference | Rs147879266(C;C) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1G |
Variation | info |
Gene | TTN |
CLNDBN | Dilated cardiomyopathy 1G |
Reversed | 0 |
HGVS | NC_000002.11:g.179602841C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013494.24, |