Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912550
rs121912550
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1867299
Disease:
Retinitis Pigmentosa 10 		T 0.710 CausalMutation CLINVAR
dbSNP: rs1057518949
rs1057518949
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0035334
Disease:
Retinitis Pigmentosa 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs121912551
rs121912551
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1867299
Disease:
Retinitis Pigmentosa 10 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912552
rs121912552
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1867299
Disease:
Retinitis Pigmentosa 10 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121912554
rs121912554
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1840284
Disease:
LEBER CONGENITAL AMAUROSIS 11 		C 0.700 CausalMutation CLINVAR
dbSNP: rs886037911
rs886037911
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1867299
Disease:
Retinitis Pigmentosa 10 		G 0.700 CausalMutation CLINVAR
dbSNP: rs2278294
rs2278294
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0024312
Disease:
Lymphopenia 		0.010 GeneticVariation BEFREE ABCC1 (rs2074087) (P = 0.022, OR = 3.406), IMPDH1 (rs2278294) (P = 0.027, OR = 0.276), and IMPDH2 (rs11706052) (P = 0.034, OR = 3.639) had a significant impact on lymphopenia. 26332308 2015
dbSNP: rs745455593
rs745455593
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1867300
Disease:
RETINITIS PIGMENTOSA 9 		0.010 GeneticVariation BEFREE Among the pseudogenes identified is a retinitis pigmentosa 9 (RP9) pseudogene that carries a c.509A>G mutation which produces a p.Asp170Gly substitution that is associated with the RP9 form of autosomal dominant retinitis pigmentosa (adRP). 16671097 2006
dbSNP: rs745455593
rs745455593
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE Among the pseudogenes identified is a retinitis pigmentosa 9 (RP9) pseudogene that carries a c.509A>G mutation which produces a p.Asp170Gly substitution that is associated with the RP9 form of autosomal dominant retinitis pigmentosa (adRP). 16671097 2006
dbSNP: rs121912550
rs121912550
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1867299
Disease:
Retinitis Pigmentosa 10 		0.710 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs121912550
rs121912550
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.040 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs121912550
rs121912550
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0684324
Disease:
Deficiency of phosphoglycerate kinase 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs121912550
rs121912550
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1970848
Disease:
Phosphoglycerate Kinase 1 Deficiency 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs1042253
rs1042253
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1867299
Disease:
Retinitis Pigmentosa 10 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs200729507
rs200729507
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1867299
Disease:
Retinitis Pigmentosa 10 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs759995866
rs759995866
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1867299
Disease:
Retinitis Pigmentosa 10 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs1042253
rs1042253
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs200729507
rs200729507
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs759995866
rs759995866
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs1042253
rs1042253
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0684324
Disease:
Deficiency of phosphoglycerate kinase 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs1042253
rs1042253
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1970848
Disease:
Phosphoglycerate Kinase 1 Deficiency 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs200729507
rs200729507
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0684324
Disease:
Deficiency of phosphoglycerate kinase 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs200729507
rs200729507
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1970848
Disease:
Phosphoglycerate Kinase 1 Deficiency 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs759995866
rs759995866
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C1970848
Disease:
Phosphoglycerate Kinase 1 Deficiency 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006
dbSNP: rs759995866
rs759995866
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0684324
Disease:
Deficiency of phosphoglycerate kinase 		0.010 GeneticVariation BEFREE An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency. 16671097 2006