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rs777893196

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAA;AGAA) 0 common in clinvar
Make rs777893196(-;-)
Make rs777893196(-;AAGA)
Make rs777893196(AAGA;AAGA)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position24906631
GeneCENPJ
is asnp
is mentioned by
dbSNPrs777893196
ClinGenrs777893196
ebirs777893196
HLIrs777893196
Exacrs777893196
Varsomers777893196
Maprs777893196
PheGenIrs777893196
hapmaprs777893196
1000 genomesrs777893196
hgdprs777893196
ensemblrs777893196
gopubmedrs777893196
geneviewrs777893196
scholarrs777893196
googlers777893196
pharmgkbrs777893196
gwascentralrs777893196
openSNPrs777893196
23andMers777893196
23andMe allrs777893196
SNP Nexus

SNPshotrs777893196
SNPdbers777893196
MSV3drs777893196
GWAS Ctlgrs777893196
Max Magnitude0
ClinVar
Risk rs777893196(-;-)
Alt rs777893196(-;-)
Reference Rs777893196(AGAA;AGAA)
Significance Pathogenic
Disease Seckel syndrome 4
Variation info
Gene CENPJ
CLNDBN Seckel syndrome 4
Reversed 0
HGVS NC_000013.10:g.25480769_25480772delAGAA
CLNSRC
CLNACC RCV000194484.1,