rs104894020, 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.
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
15 0.882 0.080 7 76304099 missense variant C/T snv 0.700 0
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
17 0.882 0.080 7 76304099 missense variant C/T snv 0.700 0
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
20 0.882 0.080 7 76304099 missense variant C/T snv 0.010 1.000 1 2017 2017