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rs121907915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907915(C;G)
Make rs121907915(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position31790835
GenePAX6
is asnp
is mentioned by
dbSNPrs121907915
ebirs121907915
HLIrs121907915
Exacrs121907915
Varsomers121907915
Maprs121907915
PheGenIrs121907915
hapmaprs121907915
1000 genomesrs121907915
hgdprs121907915
ensemblrs121907915
gopubmedrs121907915
geneviewrs121907915
scholarrs121907915
googlers121907915
pharmgkbrs121907915
gwascentralrs121907915
openSNPrs121907915
23andMers121907915
23andMe allrs121907915
SNP Nexus

SNPshotrs121907915
SNPdbers121907915
MSV3drs121907915
GWAS Ctlgrs121907915
Max Magnitude0
OMIM607108
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121907915(G;G)
Alt rs121907915(G;G)
Reference rs121907915(C;C)
Significance Pathogenic
Disease Cataracts
Variation info
Gene PAX6
CLNDBN Cataracts, congenital, with late-onset corneal dystrophy
Reversed 1
HGVS NC_000011.9:g.31812383G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003626.3,