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rs398123023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123023(A;C)
Make rs398123023(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position109521251
GeneUBE3B
is asnp
is mentioned by
dbSNPrs398123023
ebirs398123023
HLIrs398123023
Exacrs398123023
Varsomers398123023
Maprs398123023
PheGenIrs398123023
hapmaprs398123023
1000 genomesrs398123023
hgdprs398123023
ensemblrs398123023
gopubmedrs398123023
geneviewrs398123023
scholarrs398123023
googlers398123023
pharmgkbrs398123023
gwascentralrs398123023
openSNPrs398123023
23andMers398123023
23andMe allrs398123023
SNP Nexus

SNPshotrs398123023
SNPdbers398123023
MSV3drs398123023
GWAS Ctlgrs398123023
Max Magnitude0
ClinVar
Risk rs398123023(C;C)
Alt rs398123023(C;C)
Reference rs398123023(A;A)
Significance Pathogenic
Disease Kaufman oculocerebrofacial syndrome
Variation info
Gene UBE3B
CLNDBN Kaufman oculocerebrofacial syndrome
Reversed 0
HGVS NC_000012.11:g.109959056A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043490.5,