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rs797045449

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045449(-;-)
Make rs797045449(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position24906156
GeneCENPJ
is asnp
is mentioned by
dbSNPrs797045449
dbSNP (old)rs797045449
ClinGenrs797045449
ebirs797045449
HLIrs797045449
Exacrs797045449
Gnomadrs797045449
Varsomers797045449
Maprs797045449
PheGenIrs797045449
Biobankrs797045449
1000 genomesrs797045449
hgdprs797045449
ensemblrs797045449
gopubmedrs797045449
geneviewrs797045449
scholarrs797045449
googlers797045449
pharmgkbrs797045449
gwascentralrs797045449
openSNPrs797045449
23andMers797045449
23andMe allrs797045449
SNP Nexus

SNPshotrs797045449
SNPdbers797045449
MSV3drs797045449
GWAS Ctlgrs797045449
Max Magnitude0
ClinVar
Risk rs797045449(-;-)
Alt rs797045449(-;-)
Reference Rs797045449(G;G)
Significance Pathogenic
Disease Seckel syndrome 4
Variation info
Gene CENPJ
CLNDBN Seckel syndrome 4
Reversed 1
HGVS NC_000013.10:g.25480294delC
CLNSRC
CLNACC RCV000194611.1,