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

rs202058504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202058504(C;C)
Make rs202058504(C;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position24906452
GeneCENPJ
is asnp
is mentioned by
dbSNPrs202058504
ebirs202058504
HLIrs202058504
Exacrs202058504
Varsomers202058504
Maprs202058504
PheGenIrs202058504
hapmaprs202058504
1000 genomesrs202058504
hgdprs202058504
ensemblrs202058504
gopubmedrs202058504
geneviewrs202058504
scholarrs202058504
googlers202058504
pharmgkbrs202058504
gwascentralrs202058504
openSNPrs202058504
23andMers202058504
23andMe allrs202058504
SNP Nexus

SNPshotrs202058504
SNPdbers202058504
MSV3drs202058504
GWAS Ctlgrs202058504
Max Magnitude0
ClinVar
Risk rs202058504(C;C)
Alt rs202058504(C;C)
Reference rs202058504(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 6
Variation info
Gene CENPJ
CLNDBN Primary autosomal recessive microcephaly 6
Reversed 0
HGVS NC_000013.10:g.25480590G>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000145556.1,