rs752856716
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs752856716(-;A) |
Make rs752856716(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 178632349 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs752856716 |
dbSNP (classic) | rs752856716 |
ClinGen | rs752856716 |
ebi | rs752856716 |
HLI | rs752856716 |
Exac | rs752856716 |
Gnomad | rs752856716 |
Varsome | rs752856716 |
LitVar | rs752856716 |
Map | rs752856716 |
PheGenI | rs752856716 |
Biobank | rs752856716 |
1000 genomes | rs752856716 |
hgdp | rs752856716 |
ensembl | rs752856716 |
geneview | rs752856716 |
scholar | rs752856716 |
rs752856716 | |
pharmgkb | rs752856716 |
gwascentral | rs752856716 |
openSNP | rs752856716 |
23andMe | rs752856716 |
SNPshot | rs752856716 |
SNPdbe | rs752856716 |
MSV3d | rs752856716 |
GWAS Ctlg | rs752856716 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752856716(A;A) |
Alt | rs752856716(A;A) |
Reference | Rs752856716(-;-) |
Significance | Probable-Pathogenic |
Disease | not provided Primary dilated cardiomyopathy |
Variation | info |
Gene | TTN |
CLNDBN | not provided Primary dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.179497077dupA |
CLNSRC | |
CLNACC | RCV000184406.1, RCV000223318.1, |