rs201098973
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201098973(C;T) |
Make rs201098973(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47349782 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs201098973 |
dbSNP (classic) | rs201098973 |
ClinGen | rs201098973 |
ebi | rs201098973 |
HLI | rs201098973 |
Exac | rs201098973 |
Gnomad | rs201098973 |
Varsome | rs201098973 |
LitVar | rs201098973 |
Map | rs201098973 |
PheGenI | rs201098973 |
Biobank | rs201098973 |
1000 genomes | rs201098973 |
hgdp | rs201098973 |
ensembl | rs201098973 |
geneview | rs201098973 |
scholar | rs201098973 |
rs201098973 | |
pharmgkb | rs201098973 |
gwascentral | rs201098973 |
openSNP | rs201098973 |
23andMe | rs201098973 |
SNPshot | rs201098973 |
SNPdbe | rs201098973 |
MSV3d | rs201098973 |
GWAS Ctlg | rs201098973 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201098973(T;T) |
Alt | rs201098973(T;T) |
Reference | Rs201098973(C;C) |
Significance | Other |
Disease | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.47371333C>T |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000035655.6, RCV000148666.1, RCV000228233.2, |