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rs398122977

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122977(C;C)
Make rs398122977(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48756099
GeneCEP152
is asnp
is mentioned by
dbSNPrs398122977
ebirs398122977
HLIrs398122977
Exacrs398122977
Varsomers398122977
Maprs398122977
PheGenIrs398122977
hapmaprs398122977
1000 genomesrs398122977
hgdprs398122977
ensemblrs398122977
gopubmedrs398122977
geneviewrs398122977
scholarrs398122977
googlers398122977
pharmgkbrs398122977
gwascentralrs398122977
openSNPrs398122977
23andMers398122977
23andMe allrs398122977
SNP Nexus

SNPshotrs398122977
SNPdbers398122977
MSV3drs398122977
GWAS Ctlgrs398122977
Max Magnitude0
ClinVar
Risk rs398122977(C;C)
Alt rs398122977(C;C)
Reference rs398122977(T;T)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 9
Variation info
Gene CEP152
CLNDBN Primary autosomal recessive microcephaly 9
Reversed 1
HGVS NC_000015.9:g.49048296A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000077752.4,