rs752092703
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs752092703(C;G) |
Make rs752092703(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 120550818 |
Gene | CDK5RAP2 |
is a | snp |
is | mentioned by |
dbSNP | rs752092703 |
dbSNP (classic) | rs752092703 |
ClinGen | rs752092703 |
ebi | rs752092703 |
HLI | rs752092703 |
Exac | rs752092703 |
Gnomad | rs752092703 |
Varsome | rs752092703 |
LitVar | rs752092703 |
Map | rs752092703 |
PheGenI | rs752092703 |
Biobank | rs752092703 |
1000 genomes | rs752092703 |
hgdp | rs752092703 |
ensembl | rs752092703 |
geneview | rs752092703 |
scholar | rs752092703 |
rs752092703 | |
pharmgkb | rs752092703 |
gwascentral | rs752092703 |
openSNP | rs752092703 |
23andMe | rs752092703 |
SNPshot | rs752092703 |
SNPdbe | rs752092703 |
MSV3d | rs752092703 |
GWAS Ctlg | rs752092703 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752092703(G;G) |
Alt | rs752092703(G;G) |
Reference | Rs752092703(C;C) |
Significance | Probable-Pathogenic |
Disease | Corpus callosum agenesis |
Variation | info |
Gene | CDK5RAP2 |
CLNDBN | Corpus callosum agenesis |
Reversed | 0 |
HGVS | NC_000009.11:g.123313096C>G |
CLNSRC | McGill University |
CLNACC | RCV000170544.1, |