rs730880335
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs730880335(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47350574 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880335 |
dbSNP (classic) | rs730880335 |
ClinGen | rs730880335 |
ebi | rs730880335 |
HLI | rs730880335 |
Exac | rs730880335 |
Gnomad | rs730880335 |
Varsome | rs730880335 |
LitVar | rs730880335 |
Map | rs730880335 |
PheGenI | rs730880335 |
Biobank | rs730880335 |
1000 genomes | rs730880335 |
hgdp | rs730880335 |
ensembl | rs730880335 |
geneview | rs730880335 |
scholar | rs730880335 |
rs730880335 | |
pharmgkb | rs730880335 |
gwascentral | rs730880335 |
openSNP | rs730880335 |
23andMe | rs730880335 |
SNPshot | rs730880335 |
SNPdbe | rs730880335 |
MSV3d | rs730880335 |
GWAS Ctlg | rs730880335 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs730880335(T;T) |
Alt | rs730880335(T;T) |
Reference | Rs730880335(-;-) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47372126dupA |
CLNSRC | |
CLNACC | RCV000154272.2, |