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rs752092703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs752092703(C;G)
Make rs752092703(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position120550818
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs752092703
dbSNP (classic)rs752092703
ClinGenrs752092703
ebirs752092703
HLIrs752092703
Exacrs752092703
Gnomadrs752092703
Varsomers752092703
LitVarrs752092703
Maprs752092703
PheGenIrs752092703
Biobankrs752092703
1000 genomesrs752092703
hgdprs752092703
ensemblrs752092703
geneviewrs752092703
scholarrs752092703
googlers752092703
pharmgkbrs752092703
gwascentralrs752092703
openSNPrs752092703
23andMers752092703
SNPshotrs752092703
SNPdbers752092703
MSV3drs752092703
GWAS Ctlgrs752092703
Max Magnitude0
ClinVar
Risk rs752092703(G;G)
Alt rs752092703(G;G)
Reference Rs752092703(C;C)
Significance Probable-Pathogenic
Disease Corpus callosum agenesis
Variation info
Gene CDK5RAP2
CLNDBN Corpus callosum agenesis
Reversed 0
HGVS NC_000009.11:g.123313096C>G
CLNSRC McGill University
CLNACC RCV000170544.1,