rs1060501481
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1060501481(-;AA) |
Make rs1060501481(AA;AA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 47337420 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501481 |
dbSNP (classic) | rs1060501481 |
ClinGen | rs1060501481 |
ebi | rs1060501481 |
HLI | rs1060501481 |
Exac | rs1060501481 |
Gnomad | rs1060501481 |
Varsome | rs1060501481 |
LitVar | rs1060501481 |
Map | rs1060501481 |
PheGenI | rs1060501481 |
Biobank | rs1060501481 |
1000 genomes | rs1060501481 |
hgdp | rs1060501481 |
ensembl | rs1060501481 |
geneview | rs1060501481 |
scholar | rs1060501481 |
rs1060501481 | |
pharmgkb | rs1060501481 |
gwascentral | rs1060501481 |
openSNP | rs1060501481 |
23andMe | rs1060501481 |
SNPshot | rs1060501481 |
SNPdbe | rs1060501481 |
MSV3d | rs1060501481 |
GWAS Ctlg | rs1060501481 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501481(AA;AA) |
Alt | rs1060501481(AA;AA) |
Reference | Rs1060501481(-;-) |
Significance | Pathogenic |
Disease | Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47358971_47358972insTT |
CLNSRC | |
CLNACC | RCV000469319.1, |