rs730880596
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880596(A;A) |
Make rs730880596(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47332579 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880596 |
dbSNP (classic) | rs730880596 |
ClinGen | rs730880596 |
ebi | rs730880596 |
HLI | rs730880596 |
Exac | rs730880596 |
Gnomad | rs730880596 |
Varsome | rs730880596 |
LitVar | rs730880596 |
Map | rs730880596 |
PheGenI | rs730880596 |
Biobank | rs730880596 |
1000 genomes | rs730880596 |
hgdp | rs730880596 |
ensembl | rs730880596 |
geneview | rs730880596 |
scholar | rs730880596 |
rs730880596 | |
pharmgkb | rs730880596 |
gwascentral | rs730880596 |
openSNP | rs730880596 |
23andMe | rs730880596 |
SNPshot | rs730880596 |
SNPdbe | rs730880596 |
MSV3d | rs730880596 |
GWAS Ctlg | rs730880596 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880596(A;A) |
Alt | rs730880596(A;A) |
Reference | Rs730880596(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Hypertrophic cardiomyopathy Peripheral neuropathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Hypertrophic cardiomyopathy Peripheral neuropathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47354130C>T |
CLNSRC | |
CLNACC | RCV000158247.3, RCV000168378.1, RCV000449593.1, |