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rs398122971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122971(G;T)
Make rs398122971(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position120530103
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs398122971
ebirs398122971
HLIrs398122971
Exacrs398122971
Varsomers398122971
Maprs398122971
PheGenIrs398122971
hapmaprs398122971
1000 genomesrs398122971
hgdprs398122971
ensemblrs398122971
gopubmedrs398122971
geneviewrs398122971
scholarrs398122971
googlers398122971
pharmgkbrs398122971
gwascentralrs398122971
openSNPrs398122971
23andMers398122971
23andMe allrs398122971
SNP Nexus

SNPshotrs398122971
SNPdbers398122971
MSV3drs398122971
GWAS Ctlgrs398122971
Max Magnitude0
ClinVar
Risk rs398122971(T;T)
Alt rs398122971(T;T)
Reference rs398122971(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.123292381C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000076922.3,