rs1060500513
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs1060500513(-;-) |
Make rs1060500513(-;GA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 178612450 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500513 |
dbSNP (classic) | rs1060500513 |
ClinGen | rs1060500513 |
ebi | rs1060500513 |
HLI | rs1060500513 |
Exac | rs1060500513 |
Gnomad | rs1060500513 |
Varsome | rs1060500513 |
LitVar | rs1060500513 |
Map | rs1060500513 |
PheGenI | rs1060500513 |
Biobank | rs1060500513 |
1000 genomes | rs1060500513 |
hgdp | rs1060500513 |
ensembl | rs1060500513 |
geneview | rs1060500513 |
scholar | rs1060500513 |
rs1060500513 | |
pharmgkb | rs1060500513 |
gwascentral | rs1060500513 |
openSNP | rs1060500513 |
23andMe | rs1060500513 |
SNPshot | rs1060500513 |
SNPdbe | rs1060500513 |
MSV3d | rs1060500513 |
GWAS Ctlg | rs1060500513 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500513(-;-) |
Alt | rs1060500513(-;-) |
Reference | Rs1060500513(GA;GA) |
Significance | Probable-Pathogenic |
Disease | Dilated cardiomyopathy 1G |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | Dilated cardiomyopathy 1G |
Reversed | 1 |
HGVS | NC_000002.11:g.179477177_179477178delTC |
CLNSRC | |
CLNACC | RCV000457549.1, |