rs749705939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs749705939(C;T) |
Make rs749705939(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 178622768 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs749705939 |
dbSNP (classic) | rs749705939 |
ClinGen | rs749705939 |
ebi | rs749705939 |
HLI | rs749705939 |
Exac | rs749705939 |
Gnomad | rs749705939 |
Varsome | rs749705939 |
LitVar | rs749705939 |
Map | rs749705939 |
PheGenI | rs749705939 |
Biobank | rs749705939 |
1000 genomes | rs749705939 |
hgdp | rs749705939 |
ensembl | rs749705939 |
geneview | rs749705939 |
scholar | rs749705939 |
rs749705939 | |
pharmgkb | rs749705939 |
gwascentral | rs749705939 |
openSNP | rs749705939 |
23andMe | rs749705939 |
SNPshot | rs749705939 |
SNPdbe | rs749705939 |
MSV3d | rs749705939 |
GWAS Ctlg | rs749705939 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749705939(T;T) |
Alt | rs749705939(T;T) |
Reference | Rs749705939(C;C) |
Significance | Pathogenic |
Disease | not provided not specified Dilated cardiomyopathy 1G |
Variation | info |
Gene | TTN |
CLNDBN | not provided not specified Dilated cardiomyopathy 1G |
Reversed | 0 |
HGVS | NC_000002.11:g.179487495C>T |
CLNSRC | |
CLNACC | RCV000184214.4, RCV000405856.1, RCV000476723.1, |