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rs398123021

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs398123021(-;-)
Make rs398123021(-;AG)
ReferenceGRCh38 38.1/141
Chromosome12
Position109521294
GeneUBE3B
is asnp
is mentioned by
dbSNPrs398123021
ebirs398123021
HLIrs398123021
Exacrs398123021
Varsomers398123021
Maprs398123021
PheGenIrs398123021
hapmaprs398123021
1000 genomesrs398123021
hgdprs398123021
ensemblrs398123021
gopubmedrs398123021
geneviewrs398123021
scholarrs398123021
googlers398123021
pharmgkbrs398123021
gwascentralrs398123021
openSNPrs398123021
23andMers398123021
23andMe allrs398123021
SNP Nexus

SNPshotrs398123021
SNPdbers398123021
MSV3drs398123021
GWAS Ctlgrs398123021
Max Magnitude0
ClinVar
Risk rs398123021(;)
Alt rs398123021(;)
Reference rs398123021(AG;AG)
Significance Pathogenic
Disease Kaufman oculocerebrofacial syndrome
Variation info
Gene UBE3B
CLNDBN Kaufman oculocerebrofacial syndrome
Reversed 0
HGVS NC_000012.11:g.109959099_109959100delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000043488.5,