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rs797044627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044627(-;CAGTGTCTACCAACCA)
Make rs797044627(CAGTGTCTACCAACCA;CAGTGTCTACCAACCA)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position31793673
GenePAX6
is asnp
is mentioned by
dbSNPrs797044627
dbSNP (old)rs797044627
ClinGenrs797044627
ebirs797044627
HLIrs797044627
Exacrs797044627
Gnomadrs797044627
Varsomers797044627
Maprs797044627
PheGenIrs797044627
Biobankrs797044627
1000 genomesrs797044627
hgdprs797044627
ensemblrs797044627
gopubmedrs797044627
geneviewrs797044627
scholarrs797044627
googlers797044627
pharmgkbrs797044627
gwascentralrs797044627
openSNPrs797044627
23andMers797044627
23andMe allrs797044627
SNP Nexus

SNPshotrs797044627
SNPdbers797044627
MSV3drs797044627
GWAS Ctlgrs797044627
Max Magnitude0
ClinVar
Risk rs797044627(CAGTGTCTACCAACCA;CAGTGTCTACCAACCA)
Alt rs797044627(CAGTGTCTACCAACCA;CAGTGTCTACCAACCA)
Reference Rs797044627(-;-)
Significance Pathogenic
Disease Aniridia 1
Variation info
Gene PAX6
CLNDBN Aniridia 1
Reversed 1
HGVS NC_000011.9:g.31815221_31815222insTGGTTGGTAGACACTG
CLNSRC
CLNACC RCV000173670.1,