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rs120074137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074137(C;T)
Make rs120074137(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position9847015
GeneRP11-1H15.2, SBF2
is asnp
is mentioned by
dbSNPrs120074137
ebirs120074137
HLIrs120074137
Exacrs120074137
Varsomers120074137
Maprs120074137
PheGenIrs120074137
hapmaprs120074137
1000 genomesrs120074137
hgdprs120074137
ensemblrs120074137
gopubmedrs120074137
geneviewrs120074137
scholarrs120074137
googlers120074137
pharmgkbrs120074137
gwascentralrs120074137
openSNPrs120074137
23andMers120074137
23andMe allrs120074137
SNP Nexus

SNPshotrs120074137
SNPdbers120074137
MSV3drs120074137
GWAS Ctlgrs120074137
Max Magnitude0
OMIM607697
Desc
Variant0002
Relatedalso
ClinVar
Risk rs120074137(T;T)
Alt rs120074137(T;T)
Reference rs120074137(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Variation info
Gene SBF2 LOC101928008
CLNDBN Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Reversed 1
HGVS NC_000011.9:g.9868562G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003044.2,