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rs374351172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374351172(A;A)
Make rs374351172(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position120409185
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs374351172
ebirs374351172
HLIrs374351172
Exacrs374351172
Varsomers374351172
Maprs374351172
PheGenIrs374351172
hapmaprs374351172
1000 genomesrs374351172
hgdprs374351172
ensemblrs374351172
gopubmedrs374351172
geneviewrs374351172
scholarrs374351172
googlers374351172
pharmgkbrs374351172
gwascentralrs374351172
openSNPrs374351172
23andMers374351172
23andMe allrs374351172
SNP Nexus

SNPshotrs374351172
SNPdbers374351172
MSV3drs374351172
GWAS Ctlgrs374351172
Max Magnitude0
ClinVar
Risk rs374351172(A;A)
Alt rs374351172(A;A)
Reference rs374351172(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.123171463C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000076923.3,