rs730880781
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880781(C;C) |
Make rs730880781(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23419949 |
Gene | MIR208B, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs730880781 |
dbSNP (classic) | rs730880781 |
ClinGen | rs730880781 |
ebi | rs730880781 |
HLI | rs730880781 |
Exac | rs730880781 |
Gnomad | rs730880781 |
Varsome | rs730880781 |
LitVar | rs730880781 |
Map | rs730880781 |
PheGenI | rs730880781 |
Biobank | rs730880781 |
1000 genomes | rs730880781 |
hgdp | rs730880781 |
ensembl | rs730880781 |
geneview | rs730880781 |
scholar | rs730880781 |
rs730880781 | |
pharmgkb | rs730880781 |
gwascentral | rs730880781 |
openSNP | rs730880781 |
23andMe | rs730880781 |
SNPshot | rs730880781 |
SNPdbe | rs730880781 |
MSV3d | rs730880781 |
GWAS Ctlg | rs730880781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880781(A;A) rs730880781(C;C) |
Alt | rs730880781(A;A) rs730880781(C;C) |
Reference | Rs730880781(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 MIR208B |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23889158C>T |
CLNSRC | |
CLNACC | RCV000208329.1, |