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rs121918273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918273(G;T)
Make rs121918273(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position124872919
GeneROBO3
is asnp
is mentioned by
dbSNPrs121918273
ebirs121918273
HLIrs121918273
Exacrs121918273
Varsomers121918273
Maprs121918273
PheGenIrs121918273
hapmaprs121918273
1000 genomesrs121918273
hgdprs121918273
ensemblrs121918273
gopubmedrs121918273
geneviewrs121918273
scholarrs121918273
googlers121918273
pharmgkbrs121918273
gwascentralrs121918273
openSNPrs121918273
23andMers121918273
23andMe allrs121918273
SNP Nexus

SNPshotrs121918273
SNPdbers121918273
MSV3drs121918273
GWAS Ctlgrs121918273
Max Magnitude0
OMIM608630
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918273(T;T)
Alt rs121918273(T;T)
Reference rs121918273(G;G)
Significance Pathogenic
Disease Gaze palsy
Variation info
Gene ROBO3
CLNDBN Gaze palsy, familial horizontal, with progressive scoliosis
Reversed 0
HGVS NC_000011.9:g.124742815G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002260.4,