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rs121918271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918271(C;C)
Make rs121918271(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position124875145
GeneROBO3
is asnp
is mentioned by
dbSNPrs121918271
ebirs121918271
HLIrs121918271
Exacrs121918271
Varsomers121918271
Maprs121918271
PheGenIrs121918271
hapmaprs121918271
1000 genomesrs121918271
hgdprs121918271
ensemblrs121918271
gopubmedrs121918271
geneviewrs121918271
scholarrs121918271
googlers121918271
pharmgkbrs121918271
gwascentralrs121918271
openSNPrs121918271
23andMers121918271
23andMe allrs121918271
SNP Nexus

SNPshotrs121918271
SNPdbers121918271
MSV3drs121918271
GWAS Ctlgrs121918271
Max Magnitude0
OMIM608630
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918271(A,C;A,C)
Alt rs121918271(A,C;A,C)
Reference rs121918271(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.124745041G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002258.4,