rs45586240
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs45586240(C;T) |
Make rs45586240(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 201361989 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs45586240 |
dbSNP (classic) | rs45586240 |
ClinGen | rs45586240 |
ebi | rs45586240 |
HLI | rs45586240 |
Exac | rs45586240 |
Gnomad | rs45586240 |
Varsome | rs45586240 |
LitVar | rs45586240 |
Map | rs45586240 |
PheGenI | rs45586240 |
Biobank | rs45586240 |
1000 genomes | rs45586240 |
hgdp | rs45586240 |
ensembl | rs45586240 |
geneview | rs45586240 |
scholar | rs45586240 |
rs45586240 | |
pharmgkb | rs45586240 |
gwascentral | rs45586240 |
openSNP | rs45586240 |
23andMe | rs45586240 |
SNPshot | rs45586240 |
SNPdbe | rs45586240 |
MSV3d | rs45586240 |
GWAS Ctlg | rs45586240 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs45586240(A;A) rs45586240(T;T) |
Alt | rs45586240(A;A) rs45586240(T;T) |
Reference | Rs45586240(C;C) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy not provided |
Variation | info |
Gene | TNNT2 |
CLNDBN | Primary dilated cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.201331117G>A |
CLNSRC | |
CLNACC | RCV000157539.1, RCV000159308.1, |