rs727503209
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs727503209(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47346303 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs727503209 |
dbSNP (classic) | rs727503209 |
ClinGen | rs727503209 |
ebi | rs727503209 |
HLI | rs727503209 |
Exac | rs727503209 |
Gnomad | rs727503209 |
Varsome | rs727503209 |
LitVar | rs727503209 |
Map | rs727503209 |
PheGenI | rs727503209 |
Biobank | rs727503209 |
1000 genomes | rs727503209 |
hgdp | rs727503209 |
ensembl | rs727503209 |
geneview | rs727503209 |
scholar | rs727503209 |
rs727503209 | |
pharmgkb | rs727503209 |
gwascentral | rs727503209 |
openSNP | rs727503209 |
23andMe | rs727503209 |
SNPshot | rs727503209 |
SNPdbe | rs727503209 |
MSV3d | rs727503209 |
GWAS Ctlg | rs727503209 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs727503209(T;T) |
Alt | rs727503209(T;T) |
Reference | Rs727503209(-;-) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47367855dupA |
CLNSRC | |
CLNACC | RCV000151145.2, |