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rs121907916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907916(C;T)
Make rs121907916(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31794705
GenePAX6
is asnp
is mentioned by
dbSNPrs121907916
ebirs121907916
HLIrs121907916
Exacrs121907916
Varsomers121907916
Maprs121907916
PheGenIrs121907916
hapmaprs121907916
1000 genomesrs121907916
hgdprs121907916
ensemblrs121907916
gopubmedrs121907916
geneviewrs121907916
scholarrs121907916
googlers121907916
pharmgkbrs121907916
gwascentralrs121907916
openSNPrs121907916
23andMers121907916
23andMe allrs121907916
SNP Nexus

SNPshotrs121907916
SNPdbers121907916
MSV3drs121907916
GWAS Ctlgrs121907916
Max Magnitude0
OMIM607108
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121907916(T;T)
Alt rs121907916(T;T)
Reference rs121907916(C;C)
Significance Pathogenic
Disease Congenital aniridia not provided
Variation info
Gene PAX6
CLNDBN Congenital aniridia not provided
Reversed 1
HGVS NC_000011.9:g.31816253G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003631.4, RCV000078545.3,