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rs121918275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918275(C;C)
Make rs121918275(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position124865591
GeneROBO3
is asnp
is mentioned by
dbSNPrs121918275
ebirs121918275
HLIrs121918275
Exacrs121918275
Varsomers121918275
Maprs121918275
PheGenIrs121918275
hapmaprs121918275
1000 genomesrs121918275
hgdprs121918275
ensemblrs121918275
gopubmedrs121918275
geneviewrs121918275
scholarrs121918275
googlers121918275
pharmgkbrs121918275
gwascentralrs121918275
openSNPrs121918275
23andMers121918275
23andMe allrs121918275
SNP Nexus

SNPshotrs121918275
SNPdbers121918275
MSV3drs121918275
GWAS Ctlgrs121918275
Max Magnitude0
OMIM608630
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918275(C;C)
Alt rs121918275(C;C)
Reference rs121918275(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.124735487T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002263.4,