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rs121907912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907912(C;T)
Make rs121907912(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31800808
GenePAX6
is asnp
is mentioned by
dbSNPrs121907912
ebirs121907912
HLIrs121907912
Exacrs121907912
Varsomers121907912
Maprs121907912
PheGenIrs121907912
hapmaprs121907912
1000 genomesrs121907912
hgdprs121907912
ensemblrs121907912
gopubmedrs121907912
geneviewrs121907912
scholarrs121907912
googlers121907912
pharmgkbrs121907912
gwascentralrs121907912
openSNPrs121907912
23andMers121907912
23andMe allrs121907912
SNP Nexus

SNPshotrs121907912
SNPdbers121907912
MSV3drs121907912
GWAS Ctlgrs121907912
Max Magnitude0
OMIM607108
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121907912(T;T)
Alt rs121907912(T;T)
Reference rs121907912(C;C)
Significance Pathogenic
Disease Congenital aniridia
Variation info
Gene PAX6
CLNDBN Congenital aniridia
Reversed 1
HGVS NC_000011.9:g.31822356G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003625.2,