rs6504649, XYLT2

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.
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
323 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 0.710 1.000 1 2006 2006
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
CUI: C3279392
Disease: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
1 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 0.700 0
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
238 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 0.010 1.000 1 2006 2006
Skin lesion
CUI: C0037284
Disease: Skin lesion
52 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 0.010 1.000 1 2006 2006