rs727504271
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CTGCTGTGCT) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(CTGCTGTGCT;CTGCTGTGCT) | 0 | common in clinvar |
Make rs727504271(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 47332584 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs727504271 |
dbSNP (classic) | rs727504271 |
ClinGen | rs727504271 |
ebi | rs727504271 |
HLI | rs727504271 |
Exac | rs727504271 |
Gnomad | rs727504271 |
Varsome | rs727504271 |
LitVar | rs727504271 |
Map | rs727504271 |
PheGenI | rs727504271 |
Biobank | rs727504271 |
1000 genomes | rs727504271 |
hgdp | rs727504271 |
ensembl | rs727504271 |
geneview | rs727504271 |
scholar | rs727504271 |
rs727504271 | |
pharmgkb | rs727504271 |
gwascentral | rs727504271 |
openSNP | rs727504271 |
23andMe | rs727504271 |
SNPshot | rs727504271 |
SNPdbe | rs727504271 |
MSV3d | rs727504271 |
GWAS Ctlg | rs727504271 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs727504271(-;-) |
Alt | rs727504271(-;-) |
Reference | Rs727504271(CTGCTGTGCT;CTGCTGTGCT) |
Significance | Other |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47354135_47354144delAGCACAGCAG |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000211826.2, |