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rs397514640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514640(C;T)
Make rs397514640(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31802733
GenePAX6
is asnp
is mentioned by
dbSNPrs397514640
ebirs397514640
HLIrs397514640
Exacrs397514640
Varsomers397514640
Maprs397514640
PheGenIrs397514640
hapmaprs397514640
1000 genomesrs397514640
hgdprs397514640
ensemblrs397514640
gopubmedrs397514640
geneviewrs397514640
scholarrs397514640
googlers397514640
pharmgkbrs397514640
gwascentralrs397514640
openSNPrs397514640
23andMers397514640
23andMe allrs397514640
SNP Nexus

SNPshotrs397514640
SNPdbers397514640
MSV3drs397514640
GWAS Ctlgrs397514640
Max Magnitude0
ClinVar
Risk rs397514640(T;T)
Alt rs397514640(T;T)
Reference rs397514640(C;C)
Significance Pathogenic
Disease Congenital aniridia
Variation info
Gene PAX6
CLNDBN Congenital aniridia
Reversed 1
HGVS NC_000011.9:g.31824281G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033168.4,