rs201078659
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs201078659(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47346380 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs201078659 |
dbSNP (classic) | rs201078659 |
ClinGen | rs201078659 |
ebi | rs201078659 |
HLI | rs201078659 |
Exac | rs201078659 |
Gnomad | rs201078659 |
Varsome | rs201078659 |
LitVar | rs201078659 |
Map | rs201078659 |
PheGenI | rs201078659 |
Biobank | rs201078659 |
1000 genomes | rs201078659 |
hgdp | rs201078659 |
ensembl | rs201078659 |
geneview | rs201078659 |
scholar | rs201078659 |
rs201078659 | |
pharmgkb | rs201078659 |
gwascentral | rs201078659 |
openSNP | rs201078659 |
23andMe | rs201078659 |
SNPshot | rs201078659 |
SNPdbe | rs201078659 |
MSV3d | rs201078659 |
GWAS Ctlg | rs201078659 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs201078659(A;A) rs201078659(C;C) rs201078659(T;T) |
Alt | rs201078659(A;A) rs201078659(C;C) rs201078659(T;T) |
Reference | Rs201078659(G;G) |
Significance | Probable-Pathogenic |
Disease | Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy not specified Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant not specified Primary familial hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.47367931G>A; NC_000011.9:g.47367931G>C; NC_000011.9:g.47367931G>T |
CLNSRC | ClinVar |
CLNACC | RCV000305886.1, RCV000360595.1, RCV000396667.1, RCV000433499.1, RCV000035681.2, |