rs45525839
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 6.2 | Dilated cardiomyopathy |
Make rs45525839(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 201364357 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs45525839 |
dbSNP (classic) | rs45525839 |
ClinGen | rs45525839 |
ebi | rs45525839 |
HLI | rs45525839 |
Exac | rs45525839 |
Gnomad | rs45525839 |
Varsome | rs45525839 |
LitVar | rs45525839 |
Map | rs45525839 |
PheGenI | rs45525839 |
Biobank | rs45525839 |
1000 genomes | rs45525839 |
hgdp | rs45525839 |
ensembl | rs45525839 |
geneview | rs45525839 |
scholar | rs45525839 |
rs45525839 | |
pharmgkb | rs45525839 |
gwascentral | rs45525839 |
openSNP | rs45525839 |
23andMe | rs45525839 |
SNPshot | rs45525839 |
SNPdbe | rs45525839 |
MSV3d | rs45525839 |
GWAS Ctlg | rs45525839 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs45525839(A;A) rs45525839(G;G) rs45525839(T;T) |
Alt | rs45525839(A;A) rs45525839(G;G) rs45525839(T;T) |
Reference | Rs45525839(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy |
Variation | info |
Gene | TNNT2 |
CLNDBN | Primary dilated cardiomyopathy |
Reversed | 1 |
HGVS | NC_000001.10:g.201333485G>A; NC_000001.10:g.201333485G>C |
CLNSRC | ClinVar |
CLNACC | RCV000172139.2, RCV000036587.2, |