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rs199422127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422127(A;A)
Make rs199422127(A;G)
Make rs199422127(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position120415166
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs199422127
ebirs199422127
HLIrs199422127
Exacrs199422127
Varsomers199422127
Maprs199422127
PheGenIrs199422127
hapmaprs199422127
1000 genomesrs199422127
hgdprs199422127
ensemblrs199422127
gopubmedrs199422127
geneviewrs199422127
scholarrs199422127
googlers199422127
pharmgkbrs199422127
gwascentralrs199422127
openSNPrs199422127
23andMers199422127
23andMe allrs199422127
SNP Nexus

SNPshotrs199422127
SNPdbers199422127
MSV3drs199422127
GWAS Ctlgrs199422127
Max Magnitude0
ClinVar
Risk rs199422127(A,G;A,G)
Alt rs199422127(A,G;A,G)
Reference rs199422127(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 3
Variation info
Gene
CLNDBN Primary autosomal recessive microcephaly 3
Reversed 1
HGVS NC_000009.11:g.123177444G>C
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000022753.1, SCV000041427.1,