rs1060501479
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1060501479(-;G) |
Make rs1060501479(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 47351465 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501479 |
dbSNP (classic) | rs1060501479 |
ClinGen | rs1060501479 |
ebi | rs1060501479 |
HLI | rs1060501479 |
Exac | rs1060501479 |
Gnomad | rs1060501479 |
Varsome | rs1060501479 |
LitVar | rs1060501479 |
Map | rs1060501479 |
PheGenI | rs1060501479 |
Biobank | rs1060501479 |
1000 genomes | rs1060501479 |
hgdp | rs1060501479 |
ensembl | rs1060501479 |
geneview | rs1060501479 |
scholar | rs1060501479 |
rs1060501479 | |
pharmgkb | rs1060501479 |
gwascentral | rs1060501479 |
openSNP | rs1060501479 |
23andMe | rs1060501479 |
SNPshot | rs1060501479 |
SNPdbe | rs1060501479 |
MSV3d | rs1060501479 |
GWAS Ctlg | rs1060501479 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501479(G;G) |
Alt | rs1060501479(G;G) |
Reference | Rs1060501479(-;-) |
Significance | Pathogenic |
Disease | Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47373016_47373017insC |
CLNSRC | |
CLNACC | RCV000458057.1, |