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rs797045454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs797045454(-;-)
Make rs797045454(-;AG)
Make rs797045454(AG;AG)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position24908094
GeneCENPJ
is asnp
is mentioned by
dbSNPrs797045454
ClinGenrs797045454
ebirs797045454
HLIrs797045454
Exacrs797045454
Varsomers797045454
Maprs797045454
PheGenIrs797045454
hapmaprs797045454
1000 genomesrs797045454
hgdprs797045454
ensemblrs797045454
gopubmedrs797045454
geneviewrs797045454
scholarrs797045454
googlers797045454
pharmgkbrs797045454
gwascentralrs797045454
openSNPrs797045454
23andMers797045454
23andMe allrs797045454
SNP Nexus

SNPshotrs797045454
SNPdbers797045454
MSV3drs797045454
GWAS Ctlgrs797045454
Max Magnitude0
ClinVar
Risk Rs797045454(GA;GA) rs797045454(-;-)
Alt Rs797045454(GA;GA) rs797045454(-;-)
Reference rs797045454(AG;AG)
Significance Pathogenic
Disease Seckel syndrome 4
Variation info
Gene CENPJ
CLNDBN Seckel syndrome 4
Reversed 1
HGVS NC_000013.10:g.25482232_25482233delCT
CLNSRC
CLNACC RCV000193152.1,