rs121909112, HSPB1

N. diseases: 7
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 0.882 0.080 7 76303855 missense variant C/G 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 0.882 0.080 7 76303855 missense variant C/G snv 0.700 1.000 5 2008 2017
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.882 0.080 7 76303855 missense variant C/G snv 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.882 0.080 7 76303855 missense variant C/G snv 0.700 0
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 0.882 0.080 7 76303855 missense variant C/G snv 0.700 0
Hereditary peripheral neuropathy
CUI: C0392553
Disease: Hereditary peripheral neuropathy
2 0.882 0.080 7 76303855 missense variant C/G snv 0.010 1.000 1 2013 2013
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.882 0.080 7 76303855 missense variant C/G snv 0.010 1.000 1 2013 2013