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rs387906274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906274(A;G)
Make rs387906274(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position120419975
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs387906274
ebirs387906274
HLIrs387906274
Exacrs387906274
Varsomers387906274
Maprs387906274
PheGenIrs387906274
hapmaprs387906274
1000 genomesrs387906274
hgdprs387906274
ensemblrs387906274
gopubmedrs387906274
geneviewrs387906274
scholarrs387906274
googlers387906274
pharmgkbrs387906274
gwascentralrs387906274
openSNPrs387906274
23andMers387906274
23andMe allrs387906274
SNP Nexus

SNPshotrs387906274
SNPdbers387906274
MSV3drs387906274
GWAS Ctlgrs387906274
Max Magnitude0
ClinVar
Risk rs387906274(G;G)
Alt rs387906274(G;G)
Reference Rs387906274(A;A)
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.123182253T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002595.3,