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rs121907922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121907922(A;T)
Make rs121907922(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31789935
GenePAX6
is asnp
is mentioned by
dbSNPrs121907922
ebirs121907922
HLIrs121907922
Exacrs121907922
Varsomers121907922
Maprs121907922
PheGenIrs121907922
hapmaprs121907922
1000 genomesrs121907922
hgdprs121907922
ensemblrs121907922
gopubmedrs121907922
geneviewrs121907922
scholarrs121907922
googlers121907922
pharmgkbrs121907922
gwascentralrs121907922
openSNPrs121907922
23andMers121907922
23andMe allrs121907922
SNP Nexus

SNPshotrs121907922
SNPdbers121907922
MSV3drs121907922
GWAS Ctlgrs121907922
Max Magnitude0
OMIM607108
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121907922(T;T)
Alt rs121907922(T;T)
Reference rs121907922(A;A)
Significance Pathogenic
Disease Congenital aniridia
Variation info
Gene PAX6
CLNDBN Congenital aniridia
Reversed 1
HGVS NC_000011.9:g.31811483T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003642.2,