rs869025200
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs869025200(C;C) |
Make rs869025200(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 120409126 |
Gene | CDK5RAP2 |
is a | snp |
is | mentioned by |
dbSNP | rs869025200 |
dbSNP (classic) | rs869025200 |
ClinGen | rs869025200 |
ebi | rs869025200 |
HLI | rs869025200 |
Exac | rs869025200 |
Gnomad | rs869025200 |
Varsome | rs869025200 |
LitVar | rs869025200 |
Map | rs869025200 |
PheGenI | rs869025200 |
Biobank | rs869025200 |
1000 genomes | rs869025200 |
hgdp | rs869025200 |
ensembl | rs869025200 |
geneview | rs869025200 |
scholar | rs869025200 |
rs869025200 | |
pharmgkb | rs869025200 |
gwascentral | rs869025200 |
openSNP | rs869025200 |
23andMe | rs869025200 |
SNPshot | rs869025200 |
SNPdbe | rs869025200 |
MSV3d | rs869025200 |
GWAS Ctlg | rs869025200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025200(C;C) |
Alt | rs869025200(C;C) |
Reference | Rs869025200(G;G) |
Significance | Pathogenic |
Disease | Primary autosomal recessive microcephaly 3 |
Variation | info |
Gene | CDK5RAP2 |
CLNDBN | Primary autosomal recessive microcephaly 3 |
Reversed | 1 |
HGVS | NC_000009.11:g.123171404C>G |
CLNSRC | |
CLNACC | RCV000207398.1, |