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rs121907926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121907926(A;G)
Make rs121907926(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position31790722
GenePAX6
is asnp
is mentioned by
dbSNPrs121907926
ebirs121907926
HLIrs121907926
Exacrs121907926
Varsomers121907926
Maprs121907926
PheGenIrs121907926
hapmaprs121907926
1000 genomesrs121907926
hgdprs121907926
ensemblrs121907926
gopubmedrs121907926
geneviewrs121907926
scholarrs121907926
googlers121907926
pharmgkbrs121907926
gwascentralrs121907926
openSNPrs121907926
23andMers121907926
23andMe allrs121907926
SNP Nexus

SNPshotrs121907926
SNPdbers121907926
MSV3drs121907926
GWAS Ctlgrs121907926
Max Magnitude0
OMIM607108
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121907926(G;G)
Alt rs121907926(G;G)
Reference rs121907926(A;A)
Significance Pathogenic
Disease Optic nerve aplasia
Variation info
Gene PAX6
CLNDBN Optic nerve aplasia, bilateral
Reversed 1
HGVS NC_000011.9:g.31812270T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003647.2,