Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783423

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783423(-;-)
Make rs587783423(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48756232
GeneCEP152
is asnp
is mentioned by
dbSNPrs587783423
ebirs587783423
HLIrs587783423
Exacrs587783423
Varsomers587783423
Maprs587783423
PheGenIrs587783423
hapmaprs587783423
1000 genomesrs587783423
hgdprs587783423
ensemblrs587783423
gopubmedrs587783423
geneviewrs587783423
scholarrs587783423
googlers587783423
pharmgkbrs587783423
gwascentralrs587783423
openSNPrs587783423
23andMers587783423
23andMe allrs587783423
SNP Nexus

SNPshotrs587783423
SNPdbers587783423
MSV3drs587783423
GWAS Ctlgrs587783423
Max Magnitude0
ClinVar
Risk rs587783423(;)
Alt rs587783423(;)
Reference rs587783423(A;A)
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.49048429delT
CLNSRC
CLNACC RCV000145622.1,