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rs587783393

From SNPedia

Orientationminus
Geno Mag Summary
(AGGCA;AGGCA) 0 common in clinvar
Make rs587783393(-;-)
Make rs587783393(-;AGGCA)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position120536506
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs587783393
ebirs587783393
HLIrs587783393
Exacrs587783393
Varsomers587783393
Maprs587783393
PheGenIrs587783393
hapmaprs587783393
1000 genomesrs587783393
hgdprs587783393
ensemblrs587783393
gopubmedrs587783393
geneviewrs587783393
scholarrs587783393
googlers587783393
pharmgkbrs587783393
gwascentralrs587783393
openSNPrs587783393
23andMers587783393
23andMe allrs587783393
SNP Nexus

SNPshotrs587783393
SNPdbers587783393
MSV3drs587783393
GWAS Ctlgrs587783393
Max Magnitude0
ClinVar
Risk rs587783393(;)
Alt rs587783393(;)
Reference rs587783393(AGGCA;AGGCA)
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.123298784_123298788delTGCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000115025.4,