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rs797045450

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045450(C;T)
Make rs797045450(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position24906069
GeneCENPJ
is asnp
is mentioned by
dbSNPrs797045450
ebirs797045450
HLIrs797045450
Exacrs797045450
Varsomers797045450
Maprs797045450
PheGenIrs797045450
hapmaprs797045450
1000 genomesrs797045450
hgdprs797045450
ensemblrs797045450
gopubmedrs797045450
geneviewrs797045450
scholarrs797045450
googlers797045450
pharmgkbrs797045450
gwascentralrs797045450
openSNPrs797045450
23andMers797045450
23andMe allrs797045450
SNP Nexus

SNPshotrs797045450
SNPdbers797045450
MSV3drs797045450
GWAS Ctlgrs797045450
Max Magnitude0
ClinVar
Risk rs797045450(T;T)
Alt rs797045450(T;T)
Reference rs797045450(C;C)
Significance Pathogenic
Disease Seckel syndrome 4
Variation info
Gene CENPJ
CLNDBN Seckel syndrome 4
Reversed 1
HGVS NC_000013.10:g.25480207G>A
CLNSRC
CLNACC RCV000192998.1,