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rs587783414

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783414(-;-)
Make rs587783414(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48788819
GeneCEP152
is asnp
is mentioned by
dbSNPrs587783414
ebirs587783414
HLIrs587783414
Exacrs587783414
Varsomers587783414
Maprs587783414
PheGenIrs587783414
hapmaprs587783414
1000 genomesrs587783414
hgdprs587783414
ensemblrs587783414
gopubmedrs587783414
geneviewrs587783414
scholarrs587783414
googlers587783414
pharmgkbrs587783414
gwascentralrs587783414
openSNPrs587783414
23andMers587783414
23andMe allrs587783414
SNP Nexus

SNPshotrs587783414
SNPdbers587783414
MSV3drs587783414
GWAS Ctlgrs587783414
Max Magnitude0
ClinVar
Risk rs587783414(;)
Alt rs587783414(;)
Reference rs587783414(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.49081016delG
CLNSRC
CLNACC RCV000145589.1,