rs104894170, PAX2

N. diseases: 3
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.
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
1 0.925 0.160 10 100749914 missense variant G/C snv 0.700 0
Papillorenal syndrome
CUI: C1852759
Disease: Papillorenal syndrome
11 0.925 0.160 10 100749914 missense variant G/C snv 0.700 1.000 6 1998 2014
Abnormal macular morphology
CUI: C4520679
Disease: Abnormal macular morphology
3 0.925 0.160 10 100749914 missense variant G/C snv 0.010 1.000 1 2005 2005