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rs587783421

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783421(-;-)
Make rs587783421(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48760150
GeneCEP152
is asnp
is mentioned by
dbSNPrs587783421
ebirs587783421
HLIrs587783421
Exacrs587783421
Varsomers587783421
Maprs587783421
PheGenIrs587783421
hapmaprs587783421
1000 genomesrs587783421
hgdprs587783421
ensemblrs587783421
gopubmedrs587783421
geneviewrs587783421
scholarrs587783421
googlers587783421
pharmgkbrs587783421
gwascentralrs587783421
openSNPrs587783421
23andMers587783421
23andMe allrs587783421
SNP Nexus

SNPshotrs587783421
SNPdbers587783421
MSV3drs587783421
GWAS Ctlgrs587783421
Max Magnitude0
ClinVar
Risk rs587783421(;)
Alt rs587783421(;)
Reference rs587783421(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.49052347delG
CLNSRC
CLNACC RCV000145614.1,