rs397514640, PAX6

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Aniridia
CUI: C0003076
Disease: Aniridia
29 0.882 0.160 11 31802733 missense variant G/A snv 0.700 0
Bilateral microphthalmos
CUI: C1843496
Disease: Bilateral microphthalmos
11 0.882 0.160 11 31802733 missense variant G/A snv 0.010 1.000 1 2020 2020
Neurofibromatoses
CUI: C0162678
Disease: Neurofibromatoses
16 0.882 0.160 11 31802733 missense variant G/A snv 0.010 1 2007 2007
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.882 0.160 11 31802733 missense variant G/A snv 0.010 1 2007 2007