rs104894078, 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, AXONAL, TYPE 2K
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
17 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.800 1.000 5 2005 2017
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.720 1.000 2 2010 2015
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
22 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.700 1.000 9 2003 2012
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.700 0
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012