rs29001571, 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 0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 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 0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2005 2010
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
20 0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2010 2010