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rs398123022

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123022(A;G)
Make rs398123022(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109489917
GeneUBE3B
is asnp
is mentioned by
dbSNPrs398123022
ebirs398123022
HLIrs398123022
Exacrs398123022
Varsomers398123022
Maprs398123022
PheGenIrs398123022
hapmaprs398123022
1000 genomesrs398123022
hgdprs398123022
ensemblrs398123022
gopubmedrs398123022
geneviewrs398123022
scholarrs398123022
googlers398123022
pharmgkbrs398123022
gwascentralrs398123022
openSNPrs398123022
23andMers398123022
23andMe allrs398123022
SNP Nexus

SNPshotrs398123022
SNPdbers398123022
MSV3drs398123022
GWAS Ctlgrs398123022
Max Magnitude0
ClinVar
Risk rs398123022(G;G)
Alt rs398123022(G;G)
Reference rs398123022(A;A)
Significance Pathogenic
Disease Kaufman oculocerebrofacial syndrome
Variation info
Gene UBE3B
CLNDBN Kaufman oculocerebrofacial syndrome
Reversed 0
HGVS NC_000012.11:g.109927722A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043489.5,