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rs772072816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs772072816(C;C)
Make rs772072816(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position120439426
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs772072816
dbSNP (classic)rs772072816
ClinGenrs772072816
ebirs772072816
HLIrs772072816
Exacrs772072816
Gnomadrs772072816
Varsomers772072816
LitVarrs772072816
Maprs772072816
PheGenIrs772072816
Biobankrs772072816
1000 genomesrs772072816
hgdprs772072816
ensemblrs772072816
geneviewrs772072816
scholarrs772072816
googlers772072816
pharmgkbrs772072816
gwascentralrs772072816
openSNPrs772072816
23andMers772072816
SNPshotrs772072816
SNPdbers772072816
MSV3drs772072816
GWAS Ctlgrs772072816
Max Magnitude0
ClinVar
Risk rs772072816(C;C)
Alt rs772072816(C;C)
Reference Rs772072816(T;T)
Significance Probable-Pathogenic
Disease Corpus callosum agenesis
Variation info
Gene CDK5RAP2
CLNDBN Corpus callosum agenesis
Reversed 0
HGVS NC_000009.11:g.123201704T>C
CLNSRC McGill University
CLNACC RCV000170544.1,