rs121909113, HSPB1

N. diseases: 3
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.
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
17 0.925 0.040 7 76303007 missense variant C/A snv 0.800 1.000 11 2004 2017
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.925 0.040 7 76303007 missense variant C/A snv 0.010 1.000 1 2013 2013
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
20 0.925 0.040 7 76303007 missense variant C/A snv 0.010 1.000 1 2013 2013