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rs797045447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045447(A;T)
Make rs797045447(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position24906699
GeneCENPJ
is asnp
is mentioned by
dbSNPrs797045447
ClinGenrs797045447
ebirs797045447
HLIrs797045447
Exacrs797045447
Varsomers797045447
Maprs797045447
PheGenIrs797045447
hapmaprs797045447
1000 genomesrs797045447
hgdprs797045447
ensemblrs797045447
gopubmedrs797045447
geneviewrs797045447
scholarrs797045447
googlers797045447
pharmgkbrs797045447
gwascentralrs797045447
openSNPrs797045447
23andMers797045447
23andMe allrs797045447
SNP Nexus

SNPshotrs797045447
SNPdbers797045447
MSV3drs797045447
GWAS Ctlgrs797045447
Max Magnitude0
ClinVar
Risk rs797045447(T;T)
Alt rs797045447(T;T)
Reference Rs797045447(A;A)
Significance Pathogenic
Disease Seckel syndrome 4
Variation info
Gene CENPJ
CLNDBN Seckel syndrome 4
Reversed 1
HGVS NC_000013.10:g.25480837T>A
CLNSRC
CLNACC RCV000192408.1,