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rs121907914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907914(C;T)
Make rs121907914(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31801611
GenePAX6
is asnp
is mentioned by
dbSNPrs121907914
ebirs121907914
HLIrs121907914
Exacrs121907914
Varsomers121907914
Maprs121907914
PheGenIrs121907914
hapmaprs121907914
1000 genomesrs121907914
hgdprs121907914
ensemblrs121907914
gopubmedrs121907914
geneviewrs121907914
scholarrs121907914
googlers121907914
pharmgkbrs121907914
gwascentralrs121907914
openSNPrs121907914
23andMers121907914
23andMe allrs121907914
SNP Nexus

SNPshotrs121907914
SNPdbers121907914
MSV3drs121907914
GWAS Ctlgrs121907914
Max Magnitude0
OMIM607108
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121907914(T;T)
Alt rs121907914(T;T)
Reference rs121907914(C;C)
Significance Pathogenic
Disease Congenital aniridia
Variation info
Gene PAX6
CLNDBN Congenital aniridia
Reversed 1
HGVS NC_000011.9:g.31823159G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003629.3,