rs1064792936
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCA;CCA) | 0 | common in clinvar |
Chromosome | 11 |
Position | 47351272 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs1064792936 |
dbSNP (classic) | rs1064792936 |
ClinGen | rs1064792936 |
ebi | rs1064792936 |
HLI | rs1064792936 |
Exac | rs1064792936 |
Gnomad | rs1064792936 |
Varsome | rs1064792936 |
LitVar | rs1064792936 |
Map | rs1064792936 |
PheGenI | rs1064792936 |
Biobank | rs1064792936 |
1000 genomes | rs1064792936 |
hgdp | rs1064792936 |
ensembl | rs1064792936 |
geneview | rs1064792936 |
scholar | rs1064792936 |
rs1064792936 | |
pharmgkb | rs1064792936 |
gwascentral | rs1064792936 |
openSNP | rs1064792936 |
23andMe | rs1064792936 |
SNPshot | rs1064792936 |
SNPdbe | rs1064792936 |
MSV3d | rs1064792936 |
GWAS Ctlg | rs1064792936 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792936(GGAGG;GGAGG) |
Alt | rs1064792936(GGAGG;GGAGG) |
Reference | Rs1064792936(CCA;CCA) |
Significance | Pathogenic |
Disease | Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47372823_47372825delTGGinsCCTCC |
CLNSRC | |
CLNACC | RCV000473120.1, |