rs121912550, IMPDH1

N. diseases: 5
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.
Retinitis Pigmentosa 10
CUI: C1867299
Disease: Retinitis Pigmentosa 10
8 0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06 0.710 1.000 1 2006 2006
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06 0.040 1.000 4 2005 2006
Deficiency of phosphoglycerate kinase
CUI: C0684324
Disease: Deficiency of phosphoglycerate kinase
6 0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
Phosphoglycerate Kinase 1 Deficiency
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
18 0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005