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rs121907927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907927(C;C)
Make rs121907927(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position31794072
GenePAX6
is asnp
is mentioned by
dbSNPrs121907927
ebirs121907927
HLIrs121907927
Exacrs121907927
Varsomers121907927
Maprs121907927
PheGenIrs121907927
hapmaprs121907927
1000 genomesrs121907927
hgdprs121907927
ensemblrs121907927
gopubmedrs121907927
geneviewrs121907927
scholarrs121907927
googlers121907927
pharmgkbrs121907927
gwascentralrs121907927
openSNPrs121907927
23andMers121907927
23andMe allrs121907927
SNP Nexus

SNPshotrs121907927
SNPdbers121907927
MSV3drs121907927
GWAS Ctlgrs121907927
Max Magnitude0
OMIM607108
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121907927(C;C)
Alt rs121907927(C;C)
Reference rs121907927(G;G)
Significance Pathogenic
Disease Congenital aniridia
Variation info
Gene PAX6
CLNDBN Congenital aniridia
Reversed 1
HGVS NC_000011.9:g.31815620C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003649.2,