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rs267606717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606717(A;C)
Make rs267606717(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position48793359
GeneCEP152
is asnp
is mentioned by
dbSNPrs267606717
ebirs267606717
HLIrs267606717
Exacrs267606717
Varsomers267606717
Maprs267606717
PheGenIrs267606717
hapmaprs267606717
1000 genomesrs267606717
hgdprs267606717
ensemblrs267606717
gopubmedrs267606717
geneviewrs267606717
scholarrs267606717
googlers267606717
pharmgkbrs267606717
gwascentralrs267606717
openSNPrs267606717
23andMers267606717
23andMe allrs267606717
SNP Nexus

SNPshotrs267606717
SNPdbers267606717
MSV3drs267606717
GWAS Ctlgrs267606717
Max Magnitude0
ClinVar
Risk rs267606717(C;C)
Alt rs267606717(C;C)
Reference rs267606717(A;A)
Significance Other
Disease Primary autosomal recessive microcephaly 9
Variation info
Gene CEP152
CLNDBN Primary autosomal recessive microcephaly 9
Reversed 1
HGVS NC_000015.9:g.49085556T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000072.4,