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rs182018947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs182018947(A;C)
Make rs182018947(C;C)
ReferenceGRCh38 38.1/142
Chromosome15
Position48767448
GeneCEP152
is asnp
is mentioned by
dbSNPrs182018947
ebirs182018947
HLIrs182018947
Exacrs182018947
Varsomers182018947
Maprs182018947
PheGenIrs182018947
hapmaprs182018947
1000 genomesrs182018947
hgdprs182018947
ensemblrs182018947
gopubmedrs182018947
geneviewrs182018947
scholarrs182018947
googlers182018947
pharmgkbrs182018947
gwascentralrs182018947
openSNPrs182018947
23andMers182018947
23andMe allrs182018947
SNP Nexus

SNPshotrs182018947
SNPdbers182018947
MSV3drs182018947
GWAS Ctlgrs182018947
Max Magnitude0
ClinVar
Risk rs182018947(C,G;C,G)
Alt rs182018947(C,G;C,G)
Reference rs182018947(A;A)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 9
Variation info
Gene CEP152
CLNDBN Primary autosomal recessive microcephaly 9
Reversed 0
HGVS NC_000015.9:g.49059645A>C
CLNSRC Courtagen Life Sciences
CLNACC RCV000145609.2,