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rs587783387

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783387(A;A)
Make rs587783387(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position120419961
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs587783387
ebirs587783387
HLIrs587783387
Exacrs587783387
Varsomers587783387
Maprs587783387
PheGenIrs587783387
hapmaprs587783387
1000 genomesrs587783387
hgdprs587783387
ensemblrs587783387
gopubmedrs587783387
geneviewrs587783387
scholarrs587783387
googlers587783387
pharmgkbrs587783387
gwascentralrs587783387
openSNPrs587783387
23andMers587783387
23andMe allrs587783387
SNP Nexus

SNPshotrs587783387
SNPdbers587783387
MSV3drs587783387
GWAS Ctlgrs587783387
Max Magnitude0
ClinVar
Risk rs587783387(A;A)
Alt rs587783387(A;A)
Reference rs587783387(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.123182239C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000145479.2,