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rs121907918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907918(C;T)
Make rs121907918(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31800832
GenePAX6
is asnp
is mentioned by
dbSNPrs121907918
ebirs121907918
HLIrs121907918
Exacrs121907918
Varsomers121907918
Maprs121907918
PheGenIrs121907918
hapmaprs121907918
1000 genomesrs121907918
hgdprs121907918
ensemblrs121907918
gopubmedrs121907918
geneviewrs121907918
scholarrs121907918
googlers121907918
pharmgkbrs121907918
gwascentralrs121907918
openSNPrs121907918
23andMers121907918
23andMe allrs121907918
SNP Nexus

SNPshotrs121907918
SNPdbers121907918
MSV3drs121907918
GWAS Ctlgrs121907918
Max Magnitude0
OMIM607108
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121907918(T;T)
Alt rs121907918(T;T)
Reference rs121907918(C;C)
Significance Pathogenic
Disease Foveal hypoplasia and presenile cataract syndrome
Variation info
Gene PAX6
CLNDBN Foveal hypoplasia and presenile cataract syndrome
Reversed 1
HGVS NC_000011.9:g.31822380G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003635.5,