rs730880409
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730880409(C;C) |
Make rs730880409(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 34792524 |
Gene | ACTC1, LOC101928174 |
is a | snp |
is | mentioned by |
dbSNP | rs730880409 |
dbSNP (classic) | rs730880409 |
ClinGen | rs730880409 |
ebi | rs730880409 |
HLI | rs730880409 |
Exac | rs730880409 |
Gnomad | rs730880409 |
Varsome | rs730880409 |
LitVar | rs730880409 |
Map | rs730880409 |
PheGenI | rs730880409 |
Biobank | rs730880409 |
1000 genomes | rs730880409 |
hgdp | rs730880409 |
ensembl | rs730880409 |
geneview | rs730880409 |
scholar | rs730880409 |
rs730880409 | |
pharmgkb | rs730880409 |
gwascentral | rs730880409 |
openSNP | rs730880409 |
23andMe | rs730880409 |
SNPshot | rs730880409 |
SNPdbe | rs730880409 |
MSV3d | rs730880409 |
GWAS Ctlg | rs730880409 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880409(C;C) |
Alt | rs730880409(C;C) |
Reference | Rs730880409(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided not specified Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11 |
Variation | info |
Gene | ACTC1 LOC101928174 RP11-814P5.1 |
CLNDBN | not provided not specified Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11 |
Reversed | 1 |
HGVS | NC_000015.9:g.35084725A>G |
CLNSRC | |
CLNACC | RCV000157804.1, RCV000223818.1, RCV000477476.1, |