rs1555365597, ATL1

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.
Distal lower limb muscle weakness
CUI: C1836450
Disease: Distal lower limb muscle weakness
11 0.925 0.040 14 50623194 missense variant C/A snv 0.700 0
Distal sensory impairment
CUI: C1847584
Disease: Distal sensory impairment
5 0.925 0.040 14 50623194 missense variant C/A snv 0.700 0
NEUROPATHY, HEREDITARY SENSORY, TYPE ID
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
3 0.925 0.040 14 50623194 missense variant C/A snv 0.700 0
Osteomyelitis leading to amputation due to slow healing fractures
CUI: C1864975
Disease: Osteomyelitis leading to amputation due to slow healing fractures
1 0.925 0.040 14 50623194 missense variant C/A snv 0.700 0
Penetrating foot ulcers
CUI: C4025809
Disease: Penetrating foot ulcers
1 0.925 0.040 14 50623194 missense variant C/A snv 0.700 0