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rs199422126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422126(A;A)
Make rs199422126(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position120550852
GeneCDK5RAP2
is asnp
is mentioned by
dbSNPrs199422126
ebirs199422126
HLIrs199422126
Exacrs199422126
Varsomers199422126
Maprs199422126
PheGenIrs199422126
hapmaprs199422126
1000 genomesrs199422126
hgdprs199422126
ensemblrs199422126
gopubmedrs199422126
geneviewrs199422126
scholarrs199422126
googlers199422126
pharmgkbrs199422126
gwascentralrs199422126
openSNPrs199422126
23andMers199422126
23andMe allrs199422126
SNP Nexus

SNPshotrs199422126
SNPdbers199422126
MSV3drs199422126
GWAS Ctlgrs199422126
Max Magnitude0
ClinVar
Risk rs199422126(A;A)
Alt rs199422126(A;A)
Reference rs199422126(T;T)
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.123313130A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002594.4,