rs1554107200, HARS1

N. diseases: 4
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.
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.851 0.120 5 140679127 missense variant C/A snv 0.700 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
CUI: C4225265
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
9 0.851 0.120 5 140679127 missense variant C/A snv 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.851 0.120 5 140679127 missense variant C/A snv 0.700 0
Peripheral demyelinating neuropathy
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
14 0.851 0.120 5 140679127 missense variant C/A snv 0.700 0