rs104894075, GDAP1

N. diseases: 5
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, TYPE 4A (disorder)
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
22 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.700 1.000 2 2002 2011
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
17 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.700 0
Charcot-Marie-Tooth disease, Type 4A, axonal form
CUI: C1843183
Disease: Charcot-Marie-Tooth disease, Type 4A, axonal form
3 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.020 1.000 2 2003 2011
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2010 2010