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rs869025200

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025200(C;C)
Make rs869025200(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position120409126
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs869025200
ebirs869025200
HLIrs869025200
Exacrs869025200
Varsomers869025200
Maprs869025200
PheGenIrs869025200
hapmaprs869025200
1000 genomesrs869025200
hgdprs869025200
ensemblrs869025200
gopubmedrs869025200
geneviewrs869025200
scholarrs869025200
googlers869025200
pharmgkbrs869025200
gwascentralrs869025200
openSNPrs869025200
23andMers869025200
23andMe allrs869025200
SNP Nexus

SNPshotrs869025200
SNPdbers869025200
MSV3drs869025200
GWAS Ctlgrs869025200
Max Magnitude0
ClinVar
Risk rs869025200(C;C)
Alt rs869025200(C;C)
Reference rs869025200(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.123171404C>G
CLNSRC
CLNACC RCV000207398.1,