rs267606743, COL4A1

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.
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
18 1.000 0.160 13 110192222 missense variant C/T snv 0.800 1.000 1 2014 2014
RETINAL ARTERIES, TORTUOSITY OF
CUI: C1867327
Disease: RETINAL ARTERIES, TORTUOSITY OF
1 1.000 0.160 13 110192222 missense variant C/T snv 0.800 0
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 1.000 0.160 13 110192222 missense variant C/T snv 0.010 1.000 1 2014 2014
Muscle Cramp
CUI: C0026821
Disease: Muscle Cramp
8 1.000 0.160 13 110192222 missense variant C/T snv 0.010 1.000 1 2014 2014
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
40 1.000 0.160 13 110192222 missense variant C/T snv 0.010 1.000 1 2014 2014