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rs267606718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606718(C;T)
Make rs267606718(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48756289
GeneCEP152
is asnp
is mentioned by
dbSNPrs267606718
ebirs267606718
HLIrs267606718
Exacrs267606718
Varsomers267606718
Maprs267606718
PheGenIrs267606718
hapmaprs267606718
1000 genomesrs267606718
hgdprs267606718
ensemblrs267606718
gopubmedrs267606718
geneviewrs267606718
scholarrs267606718
googlers267606718
pharmgkbrs267606718
gwascentralrs267606718
openSNPrs267606718
23andMers267606718
23andMe allrs267606718
SNP Nexus

SNPshotrs267606718
SNPdbers267606718
MSV3drs267606718
GWAS Ctlgrs267606718
Max Magnitude0
ClinVar
Risk rs267606718(G,T;G,T)
Alt rs267606718(G,T;G,T)
Reference rs267606718(C;C)
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.49048486G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000073.3,