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rs121907919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907919(A;A)
Make rs121907919(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31800837
GenePAX6
is asnp
is mentioned by
dbSNPrs121907919
ebirs121907919
HLIrs121907919
Exacrs121907919
Varsomers121907919
Maprs121907919
PheGenIrs121907919
hapmaprs121907919
1000 genomesrs121907919
hgdprs121907919
ensemblrs121907919
gopubmedrs121907919
geneviewrs121907919
scholarrs121907919
googlers121907919
pharmgkbrs121907919
gwascentralrs121907919
openSNPrs121907919
23andMers121907919
23andMe allrs121907919
SNP Nexus

SNPshotrs121907919
SNPdbers121907919
MSV3drs121907919
GWAS Ctlgrs121907919
Max Magnitude0
OMIM607108
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121907919(A;A)
Alt rs121907919(A;A)
Reference rs121907919(T;T)
Significance Pathogenic
Disease Aniridia
Variation info
Gene PAX6
CLNDBN Aniridia, atypical
Reversed 1
HGVS NC_000011.9:g.31822385A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003636.3,