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rs120074139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074139(C;T)
Make rs120074139(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position9968482
GeneSBF2
is asnp
is mentioned by
dbSNPrs120074139
ebirs120074139
HLIrs120074139
Exacrs120074139
Varsomers120074139
Maprs120074139
PheGenIrs120074139
hapmaprs120074139
1000 genomesrs120074139
hgdprs120074139
ensemblrs120074139
gopubmedrs120074139
geneviewrs120074139
scholarrs120074139
googlers120074139
pharmgkbrs120074139
gwascentralrs120074139
openSNPrs120074139
23andMers120074139
23andMe allrs120074139
SNP Nexus

SNPshotrs120074139
SNPdbers120074139
MSV3drs120074139
GWAS Ctlgrs120074139
Max Magnitude0
OMIM607697
Desc
Variant0004
Relatedalso
ClinVar
Risk rs120074139(T;T)
Alt rs120074139(T;T)
Reference rs120074139(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Variation info
Gene SBF2
CLNDBN Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Reversed 1
HGVS NC_000011.9:g.9990029G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003046.2,