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: rs121912550
rs121912550
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.040 GeneticVariation BEFREE The mutation Asp226Asn was identified in 6 of the 183 unrelated patients with RP. 15851576 2005
dbSNP: rs121912550
rs121912550
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. 15851576 2005
dbSNP: rs121912550
rs121912550
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.040 GeneticVariation BEFREE Two mutations of IMPDH1 (inosine 5'-monophosphate dehydrogenase type I), R224P and D226N, have recently been found to cause adRP (autosomal dominant retinitis pigmentosa). 15882147 2005
dbSNP: rs121912552
rs121912552
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE Two mutations of IMPDH1 (inosine 5'-monophosphate dehydrogenase type I), R224P and D226N, have recently been found to cause adRP (autosomal dominant retinitis pigmentosa). 15882147 2005
dbSNP: rs1486286708
rs1486286708
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE Two novel mutations, a Leu227Pro and Lys238Arg, in the IMPDH1 gene were identified in two unrelated families with ADRP. 16038673 2005
dbSNP: rs121912550
rs121912550
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.040 GeneticVariation BEFREE Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene. 16214101 2005
dbSNP: rs121912554
rs121912554
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C2931258
Disease:
Amaurosis congenita of Leber, type 1 		0.010 GeneticVariation BEFREE Two additional IMPDH1 variants, Arg105Trp and Asn198Lys, were found in two patients with isolated LCA. 16384941 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: 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: 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: 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: 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: 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: 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: 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: 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