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rs141488085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs141488085(C;C)
Make rs141488085(C;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position103147427
GeneCENPE
is asnp
is mentioned by
dbSNPrs141488085
ebirs141488085
HLIrs141488085
Exacrs141488085
Varsomers141488085
Maprs141488085
PheGenIrs141488085
hapmaprs141488085
1000 genomesrs141488085
hgdprs141488085
ensemblrs141488085
gopubmedrs141488085
geneviewrs141488085
scholarrs141488085
googlers141488085
pharmgkbrs141488085
gwascentralrs141488085
openSNPrs141488085
23andMers141488085
23andMe allrs141488085
SNP Nexus

SNPshotrs141488085
SNPdbers141488085
MSV3drs141488085
GWAS Ctlgrs141488085
Max Magnitude0
ClinVar
Risk rs141488085(C;C)
Alt rs141488085(C;C)
Reference rs141488085(T;T)
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.104068584T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144850.5,