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rs144938364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs144938364(A;A)
Make rs144938364(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position24905576
GeneCENPJ
is asnp
is mentioned by
dbSNPrs144938364
dbSNP (classic)rs144938364
ClinGenrs144938364
ebirs144938364
HLIrs144938364
Exacrs144938364
Gnomadrs144938364
Varsomers144938364
LitVarrs144938364
Maprs144938364
PheGenIrs144938364
Biobankrs144938364
1000 genomesrs144938364
hgdprs144938364
ensemblrs144938364
geneviewrs144938364
scholarrs144938364
googlers144938364
pharmgkbrs144938364
gwascentralrs144938364
openSNPrs144938364
23andMers144938364
SNPshotrs144938364
SNPdbers144938364
MSV3drs144938364
GWAS Ctlgrs144938364
GMAF0.002755
Max Magnitude0
ClinVar
Risk rs144938364(A;A)
Alt rs144938364(A;A)
Reference Rs144938364(G;G)
Significance Other
Disease Primary autosomal recessive microcephaly 6
Variation info
Gene CENPJ
CLNDBN Primary autosomal recessive microcephaly 6
Reversed 0
HGVS NC_000013.10:g.25479714G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023763.5,