rs730880623
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs730880623(A;C) |
Make rs730880623(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47349824 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880623 |
dbSNP (classic) | rs730880623 |
ClinGen | rs730880623 |
ebi | rs730880623 |
HLI | rs730880623 |
Exac | rs730880623 |
Gnomad | rs730880623 |
Varsome | rs730880623 |
LitVar | rs730880623 |
Map | rs730880623 |
PheGenI | rs730880623 |
Biobank | rs730880623 |
1000 genomes | rs730880623 |
hgdp | rs730880623 |
ensembl | rs730880623 |
geneview | rs730880623 |
scholar | rs730880623 |
rs730880623 | |
pharmgkb | rs730880623 |
gwascentral | rs730880623 |
openSNP | rs730880623 |
23andMe | rs730880623 |
SNPshot | rs730880623 |
SNPdbe | rs730880623 |
MSV3d | rs730880623 |
GWAS Ctlg | rs730880623 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880623(C;C) |
Alt | rs730880623(C;C) |
Reference | Rs730880623(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided Dilated cardiomyopathy 1A not specified |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not provided Dilated cardiomyopathy 1A not specified |
Reversed | 1 |
HGVS | NC_000011.9:g.47371375T>G |
CLNSRC | |
CLNACC | RCV000158297.1, RCV000203144.1, RCV000221441.1, |