rs863225022, 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 76303844 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 1.000 5 2004 2016
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
17 0.882 0.080 7 76303844 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.882 0.080 7 76303844 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015