rs28939680, HSPB1

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.
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
17 0.925 0.080 7 76303841 missense variant C/A;G;T snv 0.800 1.000 11 2004 2017
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
15 0.925 0.080 7 76303841 missense variant C/A;G;T snv 0.800 1.000 9 2004 2017
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.925 0.080 7 76303841 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.925 0.080 7 76303841 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015