rs373278668
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs373278668(A;A) |
Make rs373278668(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 120408401 |
Gene | CDK5RAP2 |
is a | snp |
is | mentioned by |
dbSNP | rs373278668 |
dbSNP (classic) | rs373278668 |
ClinGen | rs373278668 |
ebi | rs373278668 |
HLI | rs373278668 |
Exac | rs373278668 |
Gnomad | rs373278668 |
Varsome | rs373278668 |
LitVar | rs373278668 |
Map | rs373278668 |
PheGenI | rs373278668 |
Biobank | rs373278668 |
1000 genomes | rs373278668 |
hgdp | rs373278668 |
ensembl | rs373278668 |
geneview | rs373278668 |
scholar | rs373278668 |
rs373278668 | |
pharmgkb | rs373278668 |
gwascentral | rs373278668 |
openSNP | rs373278668 |
23andMe | rs373278668 |
SNPshot | rs373278668 |
SNPdbe | rs373278668 |
MSV3d | rs373278668 |
GWAS Ctlg | rs373278668 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373278668(A;A) |
Alt | rs373278668(A;A) |
Reference | Rs373278668(G;G) |
Significance | Pathogenic |
Disease | Primary autosomal recessive microcephaly 3 |
Variation | info |
Gene | CDK5RAP2 |
CLNDBN | Primary autosomal recessive microcephaly 3 |
Reversed | 0 |
HGVS | NC_000009.11:g.123170679G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000076924.3, |