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rs373278668

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs373278668(A;A)
Make rs373278668(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position120408401
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs373278668
ebirs373278668
HLIrs373278668
Exacrs373278668
Varsomers373278668
Maprs373278668
PheGenIrs373278668
hapmaprs373278668
1000 genomesrs373278668
hgdprs373278668
ensemblrs373278668
gopubmedrs373278668
geneviewrs373278668
scholarrs373278668
googlers373278668
pharmgkbrs373278668
gwascentralrs373278668
openSNPrs373278668
23andMers373278668
23andMe allrs373278668
SNP Nexus

SNPshotrs373278668
SNPdbers373278668
MSV3drs373278668
GWAS Ctlgrs373278668
Max Magnitude0
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,