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rs121918277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918277(C;T)
Make rs121918277(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position124870035
GeneROBO3
is asnp
is mentioned by
dbSNPrs121918277
ebirs121918277
HLIrs121918277
Exacrs121918277
Varsomers121918277
Maprs121918277
PheGenIrs121918277
hapmaprs121918277
1000 genomesrs121918277
hgdprs121918277
ensemblrs121918277
gopubmedrs121918277
geneviewrs121918277
scholarrs121918277
googlers121918277
pharmgkbrs121918277
gwascentralrs121918277
openSNPrs121918277
23andMers121918277
23andMe allrs121918277
SNP Nexus

SNPshotrs121918277
SNPdbers121918277
MSV3drs121918277
GWAS Ctlgrs121918277
Max Magnitude0
OMIM608630
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918277(G,T;G,T)
Alt rs121918277(G,T;G,T)
Reference rs121918277(C;C)
Significance Pathogenic
Disease Gaze palsy
Variation info
Gene ROBO3
CLNDBN Gaze palsy, familial horizontal, with progressive scoliosis
Reversed 0
HGVS NC_000011.9:g.124739931C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002268.4,