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rs398123020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123020(C;C)
Make rs398123020(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109509716
GeneUBE3B
is asnp
is mentioned by
dbSNPrs398123020
ebirs398123020
HLIrs398123020
Exacrs398123020
Varsomers398123020
Maprs398123020
PheGenIrs398123020
hapmaprs398123020
1000 genomesrs398123020
hgdprs398123020
ensemblrs398123020
gopubmedrs398123020
geneviewrs398123020
scholarrs398123020
googlers398123020
pharmgkbrs398123020
gwascentralrs398123020
openSNPrs398123020
23andMers398123020
23andMe allrs398123020
SNP Nexus

SNPshotrs398123020
SNPdbers398123020
MSV3drs398123020
GWAS Ctlgrs398123020
Max Magnitude0
ClinVar
Risk rs398123020(C;C)
Alt rs398123020(C;C)
Reference rs398123020(T;T)
Significance Pathogenic
Disease Kaufman oculocerebrofacial syndrome
Variation info
Gene UBE3B
CLNDBN Kaufman oculocerebrofacial syndrome
Reversed 0
HGVS NC_000012.11:g.109947521T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043487.5,