Have questions? Visit https://www.reddit.com/r/SNPedia

rs672601305

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs672601305(-;-)
Make rs672601305(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position109510375
GeneUBE3B
is asnp
is mentioned by
dbSNPrs672601305
ebirs672601305
HLIrs672601305
Exacrs672601305
Varsomers672601305
Maprs672601305
PheGenIrs672601305
hapmaprs672601305
1000 genomesrs672601305
hgdprs672601305
ensemblrs672601305
gopubmedrs672601305
geneviewrs672601305
scholarrs672601305
googlers672601305
pharmgkbrs672601305
gwascentralrs672601305
openSNPrs672601305
23andMers672601305
23andMe allrs672601305
SNP Nexus

SNPshotrs672601305
SNPdbers672601305
MSV3drs672601305
GWAS Ctlgrs672601305
Max Magnitude0
ClinVar
Risk rs672601305(;)
Alt rs672601305(;)
Reference rs672601305(C;C)
Significance Pathogenic
Disease Kaufman oculocerebrofacial syndrome
Variation info
Gene UBE3B
CLNDBN Kaufman oculocerebrofacial syndrome
Reversed 0
HGVS NC_000012.11:g.109948180delC
CLNSRC VariO
CLNACC RCV000149398.1,