Have questions? Visit https://www.reddit.com/r/SNPedia

rs121907923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907923(C;T)
Make rs121907923(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31801716
GenePAX6
is asnp
is mentioned by
dbSNPrs121907923
ebirs121907923
HLIrs121907923
Exacrs121907923
Varsomers121907923
Maprs121907923
PheGenIrs121907923
hapmaprs121907923
1000 genomesrs121907923
hgdprs121907923
ensemblrs121907923
gopubmedrs121907923
geneviewrs121907923
scholarrs121907923
googlers121907923
pharmgkbrs121907923
gwascentralrs121907923
openSNPrs121907923
23andMers121907923
23andMe allrs121907923
SNP Nexus

SNPshotrs121907923
SNPdbers121907923
MSV3drs121907923
GWAS Ctlgrs121907923
Max Magnitude0
OMIM607108
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121907923(T;T)
Alt rs121907923(T;T)
Reference rs121907923(C;C)
Significance Pathogenic
Disease Coloboma of optic disc
Variation info
Gene PAX6
CLNDBN Coloboma of optic disc
Reversed 1
HGVS NC_000011.9:g.31823264G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003643.3,