rs1042253, IMPDH1

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.
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.851 0.120 7 128398543 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
Deficiency of phosphoglycerate kinase
CUI: C0684324
Disease: Deficiency of phosphoglycerate kinase
6 0.851 0.120 7 128398543 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
Phosphoglycerate Kinase 1 Deficiency
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
18 0.851 0.120 7 128398543 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
Retinitis Pigmentosa 10
CUI: C1867299
Disease: Retinitis Pigmentosa 10
8 0.851 0.120 7 128398543 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006