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rs121907924

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907924(C;T)
Make rs121907924(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31794699
GenePAX6
is asnp
is mentioned by
dbSNPrs121907924
ebirs121907924
HLIrs121907924
Exacrs121907924
Varsomers121907924
Maprs121907924
PheGenIrs121907924
hapmaprs121907924
1000 genomesrs121907924
hgdprs121907924
ensemblrs121907924
gopubmedrs121907924
geneviewrs121907924
scholarrs121907924
googlers121907924
pharmgkbrs121907924
gwascentralrs121907924
openSNPrs121907924
23andMers121907924
23andMe allrs121907924
SNP Nexus

SNPshotrs121907924
SNPdbers121907924
MSV3drs121907924
GWAS Ctlgrs121907924
Max Magnitude0
OMIM607108
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121907924(T;T)
Alt rs121907924(T;T)
Reference rs121907924(C;C)
Significance Pathogenic
Disease Optic nerve hypoplasia
Variation info
Gene PAX6
CLNDBN Optic nerve hypoplasia, bilateral
Reversed 1
HGVS NC_000011.9:g.31816247G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003644.2,