rs772072816
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs772072816(C;C) |
Make rs772072816(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 120439426 |
Gene | CDK5RAP2 |
is a | snp |
is | mentioned by |
dbSNP | rs772072816 |
dbSNP (classic) | rs772072816 |
ClinGen | rs772072816 |
ebi | rs772072816 |
HLI | rs772072816 |
Exac | rs772072816 |
Gnomad | rs772072816 |
Varsome | rs772072816 |
LitVar | rs772072816 |
Map | rs772072816 |
PheGenI | rs772072816 |
Biobank | rs772072816 |
1000 genomes | rs772072816 |
hgdp | rs772072816 |
ensembl | rs772072816 |
geneview | rs772072816 |
scholar | rs772072816 |
rs772072816 | |
pharmgkb | rs772072816 |
gwascentral | rs772072816 |
openSNP | rs772072816 |
23andMe | rs772072816 |
SNPshot | rs772072816 |
SNPdbe | rs772072816 |
MSV3d | rs772072816 |
GWAS Ctlg | rs772072816 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772072816(C;C) |
Alt | rs772072816(C;C) |
Reference | Rs772072816(T;T) |
Significance | Probable-Pathogenic |
Disease | Corpus callosum agenesis |
Variation | info |
Gene | CDK5RAP2 |
CLNDBN | Corpus callosum agenesis |
Reversed | 0 |
HGVS | NC_000009.11:g.123201704T>C |
CLNSRC | McGill University |
CLNACC | RCV000170544.1, |