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rs121434311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434311(A;T)
Make rs121434311(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position24884083
GeneCENPJ, RNF17
is asnp
is mentioned by
dbSNPrs121434311
ebirs121434311
HLIrs121434311
Exacrs121434311
Varsomers121434311
Maprs121434311
PheGenIrs121434311
hapmaprs121434311
1000 genomesrs121434311
hgdprs121434311
ensemblrs121434311
gopubmedrs121434311
geneviewrs121434311
scholarrs121434311
googlers121434311
pharmgkbrs121434311
gwascentralrs121434311
openSNPrs121434311
23andMers121434311
23andMe allrs121434311
SNP Nexus

SNPshotrs121434311
SNPdbers121434311
MSV3drs121434311
GWAS Ctlgrs121434311
Max Magnitude0
OMIM609279
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434311(T;T)
Alt rs121434311(T;T)
Reference rs121434311(A;A)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 6
Variation info
Gene CENPJ
CLNDBN Primary autosomal recessive microcephaly 6
Reversed 1
HGVS NC_000013.10:g.25458221T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001891.2,