rs377225516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs377225516(G;G) |
Make rs377225516(G;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47351347 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs377225516 |
dbSNP (classic) | rs377225516 |
ClinGen | rs377225516 |
ebi | rs377225516 |
HLI | rs377225516 |
Exac | rs377225516 |
Gnomad | rs377225516 |
Varsome | rs377225516 |
LitVar | rs377225516 |
Map | rs377225516 |
PheGenI | rs377225516 |
Biobank | rs377225516 |
1000 genomes | rs377225516 |
hgdp | rs377225516 |
ensembl | rs377225516 |
geneview | rs377225516 |
scholar | rs377225516 |
rs377225516 | |
pharmgkb | rs377225516 |
gwascentral | rs377225516 |
openSNP | rs377225516 |
23andMe | rs377225516 |
SNPshot | rs377225516 |
SNPdbe | rs377225516 |
MSV3d | rs377225516 |
GWAS Ctlg | rs377225516 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377225516(G;G) |
Alt | rs377225516(G;G) |
Reference | Rs377225516(T;T) |
Significance | Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.47372898T>G |
CLNSRC | |
CLNACC | RCV000035444.5, RCV000148667.1, RCV000475481.1, |