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rs121907928

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907928(A;A)
Make rs121907928(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position31801561
GenePAX6
is asnp
is mentioned by
dbSNPrs121907928
ebirs121907928
HLIrs121907928
Exacrs121907928
Varsomers121907928
Maprs121907928
PheGenIrs121907928
hapmaprs121907928
1000 genomesrs121907928
hgdprs121907928
ensemblrs121907928
gopubmedrs121907928
geneviewrs121907928
scholarrs121907928
googlers121907928
pharmgkbrs121907928
gwascentralrs121907928
openSNPrs121907928
23andMers121907928
23andMe allrs121907928
SNP Nexus

SNPshotrs121907928
SNPdbers121907928
MSV3drs121907928
GWAS Ctlgrs121907928
Max Magnitude0
OMIM607108
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121907928(A;A)
Alt rs121907928(A;A)
Reference rs121907928(C;C)
Significance Pathogenic
Disease Congenital aniridia
Variation info
Gene PAX6
CLNDBN Congenital aniridia
Reversed 1
HGVS NC_000011.9:g.31823109G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003650.2,