rs727503249
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503249(C;T) |
Make rs727503249(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23419588 |
Gene | MIR208B, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs727503249 |
dbSNP (classic) | rs727503249 |
ClinGen | rs727503249 |
ebi | rs727503249 |
HLI | rs727503249 |
Exac | rs727503249 |
Gnomad | rs727503249 |
Varsome | rs727503249 |
LitVar | rs727503249 |
Map | rs727503249 |
PheGenI | rs727503249 |
Biobank | rs727503249 |
1000 genomes | rs727503249 |
hgdp | rs727503249 |
ensembl | rs727503249 |
geneview | rs727503249 |
scholar | rs727503249 |
rs727503249 | |
pharmgkb | rs727503249 |
gwascentral | rs727503249 |
openSNP | rs727503249 |
23andMe | rs727503249 |
SNPshot | rs727503249 |
SNPdbe | rs727503249 |
MSV3d | rs727503249 |
GWAS Ctlg | rs727503249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503249(T;T) |
Alt | rs727503249(T;T) |
Reference | Rs727503249(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy |
Variation | info |
Gene | MYH7 MIR208B |
CLNDBN | Primary dilated cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23888797G>A |
CLNSRC | |
CLNACC | RCV000151246.1, |