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rs747831095

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs747831095(-;-)
Make rs747831095(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position120443671
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs747831095
ClinGenrs747831095
ebirs747831095
HLIrs747831095
Exacrs747831095
Varsomers747831095
Maprs747831095
PheGenIrs747831095
hapmaprs747831095
1000 genomesrs747831095
hgdprs747831095
ensemblrs747831095
gopubmedrs747831095
geneviewrs747831095
scholarrs747831095
googlers747831095
pharmgkbrs747831095
gwascentralrs747831095
openSNPrs747831095
23andMers747831095
23andMe allrs747831095
SNP Nexus

SNPshotrs747831095
SNPdbers747831095
MSV3drs747831095
GWAS Ctlgrs747831095
Max Magnitude0
ClinVar
Risk rs747831095(-;-)
Alt rs747831095(-;-)
Reference Rs747831095(C;C)
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.123205949delC
CLNSRC
CLNACC RCV000207363.1,