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rs869312853

From SNPedia

Orientationminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs869312853(AA;T)
Make rs869312853(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48756233
GeneCEP152
is asnp
is mentioned by
dbSNPrs869312853
ebirs869312853
HLIrs869312853
Exacrs869312853
Varsomers869312853
Maprs869312853
PheGenIrs869312853
hapmaprs869312853
1000 genomesrs869312853
hgdprs869312853
ensemblrs869312853
gopubmedrs869312853
geneviewrs869312853
scholarrs869312853
googlers869312853
pharmgkbrs869312853
gwascentralrs869312853
openSNPrs869312853
23andMers869312853
23andMe allrs869312853
SNP Nexus

SNPshotrs869312853
SNPdbers869312853
MSV3drs869312853
GWAS Ctlgrs869312853
Max Magnitude0
ClinVar
Risk rs869312853(T;T)
Alt rs869312853(T;T)
Reference rs869312853(AA;AA)
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.49048430_49048431delTTinsA
CLNSRC
CLNACC RCV000192978.1,