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 IIA
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
3 0.827 0.080 12 119187080 missense variant G/C;T snv 0.800 1.000 2 2004 2017
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.827 0.080 12 119187080 missense variant G/C;T snv 0.720 1.000 2 2006 2017
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
CUI: C1837552
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
2 0.827 0.080 12 119187080 missense variant G/C;T snv 0.700 0
Distal Hereditary Motor Neuropathy, Type II
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
2 0.827 0.080 12 119187080 missense variant G/C;T snv 0.020 1.000 2 2004 2006
Machado-Joseph Disease
CUI: C0024408
Disease: Machado-Joseph Disease
12 0.827 0.080 12 119187080 missense variant G/C;T snv 0.010 1.000 1 2010 2010
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.827 0.080 12 119187080 missense variant G/C;T snv 0.010 1.000 1 2010 2010