rs397515442, GDAP1

N. diseases: 4
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 0.882 0.080 8 74360194 missense variant A/G snv 0.800 1.000 5 2005 2017
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
22 0.882 0.080 8 74360194 missense variant A/G snv 0.700 1.000 5 2011 2017
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.882 0.080 8 74360194 missense variant A/G snv 0.010 1.000 1 2013 2013
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.882 0.080 8 74360194 missense variant A/G snv 0.010 1.000 1 2013 2013