rs1060501478
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060501478(-;-) |
Make rs1060501478(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 47338549 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501478 |
dbSNP (classic) | rs1060501478 |
ClinGen | rs1060501478 |
ebi | rs1060501478 |
HLI | rs1060501478 |
Exac | rs1060501478 |
Gnomad | rs1060501478 |
Varsome | rs1060501478 |
LitVar | rs1060501478 |
Map | rs1060501478 |
PheGenI | rs1060501478 |
Biobank | rs1060501478 |
1000 genomes | rs1060501478 |
hgdp | rs1060501478 |
ensembl | rs1060501478 |
geneview | rs1060501478 |
scholar | rs1060501478 |
rs1060501478 | |
pharmgkb | rs1060501478 |
gwascentral | rs1060501478 |
openSNP | rs1060501478 |
23andMe | rs1060501478 |
SNPshot | rs1060501478 |
SNPdbe | rs1060501478 |
MSV3d | rs1060501478 |
GWAS Ctlg | rs1060501478 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501478(-;-) |
Alt | rs1060501478(-;-) |
Reference | Rs1060501478(A;A) |
Significance | Pathogenic |
Disease | Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47360100delT |
CLNSRC | |
CLNACC | RCV000466875.1, |