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rs121907913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907913(C;G)
Make rs121907913(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position31802769
GenePAX6
is asnp
is mentioned by
dbSNPrs121907913
ebirs121907913
HLIrs121907913
Exacrs121907913
Varsomers121907913
Maprs121907913
PheGenIrs121907913
hapmaprs121907913
1000 genomesrs121907913
hgdprs121907913
ensemblrs121907913
gopubmedrs121907913
geneviewrs121907913
scholarrs121907913
googlers121907913
pharmgkbrs121907913
gwascentralrs121907913
openSNPrs121907913
23andMers121907913
23andMe allrs121907913
SNP Nexus

SNPshotrs121907913
SNPdbers121907913
MSV3drs121907913
GWAS Ctlgrs121907913
Max Magnitude0
OMIM607108
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121907913(G;G)
Alt rs121907913(G;G)
Reference rs121907913(C;C)
Significance Pathogenic
Disease Irido-corneo-trabecular dysgenesis Congenital aniridia
Variation info
Gene PAX6
CLNDBN Irido-corneo-trabecular dysgenesis Congenital aniridia
Reversed 1
HGVS NC_000011.9:g.31824317G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003627.3, RCV000003628.3,