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rs144716013

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144716013(C;T)
Make rs144716013(T;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position103158691
GeneCENPE
is asnp
is mentioned by
dbSNPrs144716013
ebirs144716013
HLIrs144716013
Exacrs144716013
Varsomers144716013
Maprs144716013
PheGenIrs144716013
hapmaprs144716013
1000 genomesrs144716013
hgdprs144716013
ensemblrs144716013
gopubmedrs144716013
geneviewrs144716013
scholarrs144716013
googlers144716013
pharmgkbrs144716013
gwascentralrs144716013
openSNPrs144716013
23andMers144716013
23andMe allrs144716013
SNP Nexus

SNPshotrs144716013
SNPdbers144716013
MSV3drs144716013
GWAS Ctlgrs144716013
Max Magnitude0
ClinVar
Risk rs144716013(A,T;A,T)
Alt rs144716013(A,T;A,T)
Reference rs144716013(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 13
Variation info
Gene CENPE
CLNDBN Primary autosomal recessive microcephaly 13
Reversed 0
HGVS NC_000004.11:g.104079848C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144849.5,