rs727504288
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs727504288(-;-) |
Make rs727504288(-;AGA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47337550 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs727504288 |
dbSNP (classic) | rs727504288 |
ClinGen | rs727504288 |
ebi | rs727504288 |
HLI | rs727504288 |
Exac | rs727504288 |
Gnomad | rs727504288 |
Varsome | rs727504288 |
LitVar | rs727504288 |
Map | rs727504288 |
PheGenI | rs727504288 |
Biobank | rs727504288 |
1000 genomes | rs727504288 |
hgdp | rs727504288 |
ensembl | rs727504288 |
geneview | rs727504288 |
scholar | rs727504288 |
rs727504288 | |
pharmgkb | rs727504288 |
gwascentral | rs727504288 |
openSNP | rs727504288 |
23andMe | rs727504288 |
SNPshot | rs727504288 |
SNPdbe | rs727504288 |
MSV3d | rs727504288 |
GWAS Ctlg | rs727504288 |
Merged from | Rs863225108 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs727504288(AGA;AGA) rs727504288(-;-) |
Alt | Rs727504288(AGA;AGA) rs727504288(-;-) |
Reference | rs727504288(AAG;AAG) |
Significance | Other |
Disease | not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47359101_47359103delTCT |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000154301.3, RCV000157327.3, RCV000168801.2, RCV000196806.3, |