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rs121918278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918278(C;T)
Make rs121918278(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position124875581
GeneROBO3
is asnp
is mentioned by
dbSNPrs121918278
ebirs121918278
HLIrs121918278
Exacrs121918278
Varsomers121918278
Maprs121918278
PheGenIrs121918278
hapmaprs121918278
1000 genomesrs121918278
hgdprs121918278
ensemblrs121918278
gopubmedrs121918278
geneviewrs121918278
scholarrs121918278
googlers121918278
pharmgkbrs121918278
gwascentralrs121918278
openSNPrs121918278
23andMers121918278
23andMe allrs121918278
SNP Nexus

SNPshotrs121918278
SNPdbers121918278
MSV3drs121918278
GWAS Ctlgrs121918278
Max Magnitude0
OMIM608630
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918278(T;T)
Alt rs121918278(T;T)
Reference rs121918278(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.124745477C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002269.4,