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rs121907925

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907925(C;C)
Make rs121907925(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31793795
GenePAX6
is asnp
is mentioned by
dbSNPrs121907925
ebirs121907925
HLIrs121907925
Exacrs121907925
Varsomers121907925
Maprs121907925
PheGenIrs121907925
hapmaprs121907925
1000 genomesrs121907925
hgdprs121907925
ensemblrs121907925
gopubmedrs121907925
geneviewrs121907925
scholarrs121907925
googlers121907925
pharmgkbrs121907925
gwascentralrs121907925
openSNPrs121907925
23andMers121907925
23andMe allrs121907925
SNP Nexus

SNPshotrs121907925
SNPdbers121907925
MSV3drs121907925
GWAS Ctlgrs121907925
Max Magnitude0
OMIM607108
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121907925(C;C)
Alt rs121907925(C;C)
Reference rs121907925(T;T)
Significance Pathogenic
Disease Coloboma of optic disc Congenital ocular coloboma
Variation info
Gene PAX6
CLNDBN Coloboma of optic disc Congenital ocular coloboma
Reversed 1
HGVS NC_000011.9:g.31815343A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003645.3, RCV000003646.2,