rs279552
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(G;G) | 0 | common in complete genomics |
Make rs279552(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 9934475 |
Gene | CRELD1 |
is a | snp |
is | mentioned by |
dbSNP | rs279552 |
dbSNP (classic) | rs279552 |
ClinGen | rs279552 |
ebi | rs279552 |
HLI | rs279552 |
Exac | rs279552 |
Gnomad | rs279552 |
Varsome | rs279552 |
LitVar | rs279552 |
Map | rs279552 |
PheGenI | rs279552 |
Biobank | rs279552 |
1000 genomes | rs279552 |
hgdp | rs279552 |
ensembl | rs279552 |
geneview | rs279552 |
scholar | rs279552 |
rs279552 | |
pharmgkb | rs279552 |
gwascentral | rs279552 |
openSNP | rs279552 |
23andMe | rs279552 |
SNPshot | rs279552 |
SNPdbe | rs279552 |
MSV3d | rs279552 |
GWAS Ctlg | rs279552 |
GMAF | 0.006428 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs279552(G;G) |
Alt | Rs279552(G;G) |
Reference | Rs279552(A;A) |
Significance | Non-pathogenic |
Disease | not specified Atrioventricular septal defect 2 |
Variation | info |
Gene | CRELD1 |
CLNDBN | not specified Atrioventricular septal defect 2 |
Reversed | 0 |
HGVS | NC_000003.11:g.9976159A\x3d |
CLNSRC | ClinVar GeneDx |
CLNACC | RCV000124609.1, RCV000462748.1, |