rs727503170
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(G;G) | 0 | common in clinvar |
Make rs727503170(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47332588 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs727503170 |
dbSNP (classic) | rs727503170 |
ClinGen | rs727503170 |
ebi | rs727503170 |
HLI | rs727503170 |
Exac | rs727503170 |
Gnomad | rs727503170 |
Varsome | rs727503170 |
LitVar | rs727503170 |
Map | rs727503170 |
PheGenI | rs727503170 |
Biobank | rs727503170 |
1000 genomes | rs727503170 |
hgdp | rs727503170 |
ensembl | rs727503170 |
geneview | rs727503170 |
scholar | rs727503170 |
rs727503170 | |
pharmgkb | rs727503170 |
gwascentral | rs727503170 |
openSNP | rs727503170 |
23andMe | rs727503170 |
SNPshot | rs727503170 |
SNPdbe | rs727503170 |
MSV3d | rs727503170 |
GWAS Ctlg | rs727503170 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs727503170(A;A) rs727503170(C;C) |
Alt | rs727503170(A;A) rs727503170(C;C) |
Reference | Rs727503170(G;G) |
Significance | Probable-Pathogenic |
Disease | Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47354139C>G; NC_000011.9:g.47354139C>T |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000473360.1, RCV000211729.1, |