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rs121918652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918652(C;C)
Make rs121918652(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712749
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs121918652
ebirs121918652
HLIrs121918652
Exacrs121918652
Varsomers121918652
Maprs121918652
PheGenIrs121918652
hapmaprs121918652
1000 genomesrs121918652
hgdprs121918652
ensemblrs121918652
gopubmedrs121918652
geneviewrs121918652
scholarrs121918652
googlers121918652
pharmgkbrs121918652
gwascentralrs121918652
openSNPrs121918652
23andMers121918652
23andMe allrs121918652
SNP Nexus

SNPshotrs121918652
SNPdbers121918652
MSV3drs121918652
GWAS Ctlgrs121918652
Max Magnitude0
OMIM184429
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918652(C;C)
Alt rs121918652(C;C)
Reference rs121918652(G;G)
Significance Pathogenic
Disease Optic nerve hypoplasia and abnormalities of the central nervous system
Variation info
Gene SOX2-OT SOX2
CLNDBN Optic nerve hypoplasia and abnormalities of the central nervous system
Reversed 0
HGVS NC_000003.11:g.181430537G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013673.20,