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rs121918272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918272(C;C)
Make rs121918272(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position124875150
GeneROBO3
is asnp
is mentioned by
dbSNPrs121918272
ebirs121918272
HLIrs121918272
Exacrs121918272
Varsomers121918272
Maprs121918272
PheGenIrs121918272
hapmaprs121918272
1000 genomesrs121918272
hgdprs121918272
ensemblrs121918272
gopubmedrs121918272
geneviewrs121918272
scholarrs121918272
googlers121918272
pharmgkbrs121918272
gwascentralrs121918272
openSNPrs121918272
23andMers121918272
23andMe allrs121918272
SNP Nexus

SNPshotrs121918272
SNPdbers121918272
MSV3drs121918272
GWAS Ctlgrs121918272
Max Magnitude0
OMIM608630
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918272(A,C;A,C)
Alt rs121918272(A,C;A,C)
Reference rs121918272(T;T)
Significance Pathogenic
Disease Gaze palsy
Variation info
Gene ROBO3
CLNDBN Gaze palsy, familial horizontal, with progressive scoliosis
Reversed 0
HGVS NC_000011.9:g.124745046T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002259.4,