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rs199422202

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422202(-;-)
Make rs199422202(-;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position24913009
GeneCENPJ
is asnp
is mentioned by
dbSNPrs199422202
ebirs199422202
HLIrs199422202
Exacrs199422202
Varsomers199422202
Maprs199422202
PheGenIrs199422202
hapmaprs199422202
1000 genomesrs199422202
hgdprs199422202
ensemblrs199422202
gopubmedrs199422202
geneviewrs199422202
scholarrs199422202
googlers199422202
pharmgkbrs199422202
gwascentralrs199422202
openSNPrs199422202
23andMers199422202
23andMe allrs199422202
SNP Nexus

SNPshotrs199422202
SNPdbers199422202
MSV3drs199422202
GWAS Ctlgrs199422202
Max Magnitude0
ClinVar
Risk rs199422202(;)
Alt rs199422202(;)
Reference rs199422202(C;C)
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.25487147delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001890.3,