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rs121907917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907917(C;T)
Make rs121907917(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31794079
GenePAX6
is asnp
is mentioned by
dbSNPrs121907917
ebirs121907917
HLIrs121907917
Exacrs121907917
Varsomers121907917
Maprs121907917
PheGenIrs121907917
hapmaprs121907917
1000 genomesrs121907917
hgdprs121907917
ensemblrs121907917
gopubmedrs121907917
geneviewrs121907917
scholarrs121907917
googlers121907917
pharmgkbrs121907917
gwascentralrs121907917
openSNPrs121907917
23andMers121907917
23andMe allrs121907917
SNP Nexus

SNPshotrs121907917
SNPdbers121907917
MSV3drs121907917
GWAS Ctlgrs121907917
Max Magnitude0
OMIM607108
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121907917(T;T)
Alt rs121907917(T;T)
Reference Rs121907917(C;C)
Significance Pathogenic
Disease Aniridia 1
Variation info
Gene PAX6
CLNDBN Aniridia 1
Reversed 1
HGVS NC_000011.9:g.31815627G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003632.2,