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rs797044642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044642(-;ATATG)
Make rs797044642(ATATG;ATATG)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position31789960
GenePAX6
is asnp
is mentioned by
dbSNPrs797044642
dbSNP (classic)rs797044642
ClinGenrs797044642
ebirs797044642
HLIrs797044642
Exacrs797044642
Gnomadrs797044642
Varsomers797044642
LitVarrs797044642
Maprs797044642
PheGenIrs797044642
Biobankrs797044642
1000 genomesrs797044642
hgdprs797044642
ensemblrs797044642
geneviewrs797044642
scholarrs797044642
googlers797044642
pharmgkbrs797044642
gwascentralrs797044642
openSNPrs797044642
23andMers797044642
SNPshotrs797044642
SNPdbers797044642
MSV3drs797044642
GWAS Ctlgrs797044642
Max Magnitude0
ClinVar
Risk rs797044642(ATATG;ATATG)
Alt rs797044642(ATATG;ATATG)
Reference Rs797044642(-;-)
Significance Pathogenic
Disease Aniridia 1
Variation info
Gene PAX6
CLNDBN Aniridia 1
Reversed 1
HGVS NC_000011.9:g.31811508_31811509insCATAT
CLNSRC
CLNACC RCV000174463.1,