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rs864309681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309681(-;-)
Make rs864309681(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position31790816
GenePAX6
is asnp
is mentioned by
dbSNPrs864309681
dbSNP (classic)rs864309681
ClinGenrs864309681
ebirs864309681
HLIrs864309681
Exacrs864309681
Gnomadrs864309681
Varsomers864309681
LitVarrs864309681
Maprs864309681
PheGenIrs864309681
Biobankrs864309681
1000 genomesrs864309681
hgdprs864309681
ensemblrs864309681
geneviewrs864309681
scholarrs864309681
googlers864309681
pharmgkbrs864309681
gwascentralrs864309681
openSNPrs864309681
23andMers864309681
SNPshotrs864309681
SNPdbers864309681
MSV3drs864309681
GWAS Ctlgrs864309681
Max Magnitude0
ClinVar
Risk rs864309681(-;-)
Alt rs864309681(-;-)
Reference Rs864309681(C;C)
Significance Pathogenic
Disease Congenital cataract
Variation info
Gene PAX6
CLNDBN Congenital cataract
Reversed 1
HGVS NC_000011.9:g.31812364delG
CLNSRC
CLNACC RCV000203337.1,