rs1057519090, COL4A2

N. diseases: 7
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.
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0
Hemiplegia
CUI: C0018991
Disease: Hemiplegia
6 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0
Hyperintensity of cerebral white matter on MRI
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
1 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0
Intracranial Hemorrhage
CUI: C0151699
Disease: Intracranial Hemorrhage
2 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0
Miosis disorder
CUI: C0026205
Disease: Miosis disorder
1 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0
Porencephalic cyst
CUI: C4082172
Disease: Porencephalic cyst
2 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0