rs267606743, COL4A1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
RETINAL ARTERIES, TORTUOSITY OF
CUI: C1867327
Disease: RETINAL ARTERIES, TORTUOSITY OF
0.800 CausalMutation CLINVAR
RETINAL ARTERIES, TORTUOSITY OF
CUI: C1867327
Disease: RETINAL ARTERIES, TORTUOSITY OF
0.800 GeneticVariation UNIPROT
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
0.800 CausalMutation CLINVAR
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.010 GeneticVariation BEFREE Interestingly, the COL4A1 p.Gly510Arg mutation has been previously identified in a family with HANAC (Hereditary Angiopathy with Nephropathy, Aneurysm and Cramps), a multisystemic disease featuring retinal arteriolar tortuosity. 25228067 2014
Muscle Cramp
CUI: C0026821
Disease: Muscle Cramp
0.010 GeneticVariation BEFREE Interestingly, the COL4A1 p.Gly510Arg mutation has been previously identified in a family with HANAC (Hereditary Angiopathy with Nephropathy, Aneurysm and Cramps), a multisystemic disease featuring retinal arteriolar tortuosity. 25228067 2014
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
0.010 GeneticVariation BEFREE Interestingly, the COL4A1 p.Gly510Arg mutation has been previously identified in a family with HANAC (Hereditary Angiopathy with Nephropathy, Aneurysm and Cramps), a multisystemic disease featuring retinal arteriolar tortuosity. 25228067 2014
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014