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rs398123295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123295(A;A)
Make rs398123295(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position31801560
GenePAX6
is asnp
is mentioned by
dbSNPrs398123295
ebirs398123295
HLIrs398123295
Exacrs398123295
Varsomers398123295
Maprs398123295
PheGenIrs398123295
hapmaprs398123295
1000 genomesrs398123295
hgdprs398123295
ensemblrs398123295
gopubmedrs398123295
geneviewrs398123295
scholarrs398123295
googlers398123295
pharmgkbrs398123295
gwascentralrs398123295
openSNPrs398123295
23andMers398123295
23andMe allrs398123295
SNP Nexus

SNPshotrs398123295
SNPdbers398123295
MSV3drs398123295
GWAS Ctlgrs398123295
Max Magnitude0
ClinVar
Risk rs398123295(A;A)
Alt rs398123295(A;A)
Reference rs398123295(G;G)
Significance Pathogenic
Disease not provided Congenital aniridia
Variation info
Gene PAX6
CLNDBN not provided Congenital aniridia
Reversed 1
HGVS NC_000011.9:g.31823108C>T
CLNSRC HGMD
CLNACC RCV000078543.3, RCV000179284.1,