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rs121907920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907920(G;T)
Make rs121907920(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31801727
GenePAX6
is asnp
is mentioned by
dbSNPrs121907920
ebirs121907920
HLIrs121907920
Exacrs121907920
Varsomers121907920
Maprs121907920
PheGenIrs121907920
hapmaprs121907920
1000 genomesrs121907920
hgdprs121907920
ensemblrs121907920
gopubmedrs121907920
geneviewrs121907920
scholarrs121907920
googlers121907920
pharmgkbrs121907920
gwascentralrs121907920
openSNPrs121907920
23andMers121907920
23andMe allrs121907920
SNP Nexus

SNPshotrs121907920
SNPdbers121907920
MSV3drs121907920
GWAS Ctlgrs121907920
Max Magnitude0
OMIM607108
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121907920(T;T)
Alt rs121907920(T;T)
Reference rs121907920(G;G)
Significance Pathogenic
Disease Foveal hypoplasia 1 with cataract
Variation info
Gene PAX6
CLNDBN Foveal hypoplasia 1 with cataract
Reversed 1
HGVS NC_000011.9:g.31823275C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003637.4,