rs769303249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs769303249(G;T) |
Make rs769303249(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 34793390 |
Gene | ACTC1, LOC101928174 |
is a | snp |
is | mentioned by |
dbSNP | rs769303249 |
dbSNP (classic) | rs769303249 |
ClinGen | rs769303249 |
ebi | rs769303249 |
HLI | rs769303249 |
Exac | rs769303249 |
Gnomad | rs769303249 |
Varsome | rs769303249 |
LitVar | rs769303249 |
Map | rs769303249 |
PheGenI | rs769303249 |
Biobank | rs769303249 |
1000 genomes | rs769303249 |
hgdp | rs769303249 |
ensembl | rs769303249 |
geneview | rs769303249 |
scholar | rs769303249 |
rs769303249 | |
pharmgkb | rs769303249 |
gwascentral | rs769303249 |
openSNP | rs769303249 |
23andMe | rs769303249 |
SNPshot | rs769303249 |
SNPdbe | rs769303249 |
MSV3d | rs769303249 |
GWAS Ctlg | rs769303249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769303249(A;A) rs769303249(T;T) |
Alt | rs769303249(A;A) rs769303249(T;T) |
Reference | Rs769303249(G;G) |
Significance | Probable-Pathogenic |
Disease | Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11 not provided |
Variation | info |
Gene | ACTC1 LOC101928174 RP11-814P5.1 |
CLNDBN | Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11 not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.35085591G>A; NC_000015.9:g.35085591G>T |
CLNSRC | |
CLNACC | RCV000467806.1, RCV000418492.1, |