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rs121907921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907921(A;A)
Make rs121907921(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31801893
GenePAX6
is asnp
is mentioned by
dbSNPrs121907921
ebirs121907921
HLIrs121907921
Exacrs121907921
Varsomers121907921
Maprs121907921
PheGenIrs121907921
hapmaprs121907921
1000 genomesrs121907921
hgdprs121907921
ensemblrs121907921
gopubmedrs121907921
geneviewrs121907921
scholarrs121907921
googlers121907921
pharmgkbrs121907921
gwascentralrs121907921
openSNPrs121907921
23andMers121907921
23andMe allrs121907921
SNP Nexus

SNPshotrs121907921
SNPdbers121907921
MSV3drs121907921
GWAS Ctlgrs121907921
Max Magnitude0
OMIM607108
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121907921(A;A)
Alt rs121907921(A;A)
Reference rs121907921(T;T)
Significance Pathogenic
Disease Irido-corneo-trabecular dysgenesis Foveal hypoplasia 1 with or without anterior segment anomalies
Variation info
Gene PAX6
CLNDBN Irido-corneo-trabecular dysgenesis Foveal hypoplasia 1 with or without anterior segment anomalies
Reversed 1
HGVS NC_000011.9:g.31823441A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003638.4, RCV000128793.3,