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rs121907929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907929(A;A)
Make rs121907929(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position31793797
GenePAX6
is asnp
is mentioned by
dbSNPrs121907929
ebirs121907929
HLIrs121907929
Exacrs121907929
Varsomers121907929
Maprs121907929
PheGenIrs121907929
hapmaprs121907929
1000 genomesrs121907929
hgdprs121907929
ensemblrs121907929
gopubmedrs121907929
geneviewrs121907929
scholarrs121907929
googlers121907929
pharmgkbrs121907929
gwascentralrs121907929
openSNPrs121907929
23andMers121907929
23andMe allrs121907929
SNP Nexus

SNPshotrs121907929
SNPdbers121907929
MSV3drs121907929
GWAS Ctlgrs121907929
Max Magnitude0
OMIM607108
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121907929(A;A)
Alt rs121907929(A;A)
Reference rs121907929(G;G)
Significance Pathogenic
Disease Congenital aniridia
Variation info
Gene PAX6
CLNDBN Congenital aniridia
Reversed 1
HGVS NC_000011.9:g.31815345C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003652.3,