rs104894077, GDAP1

N. diseases: 8
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 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.700 1.000 3 2002 2011
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.700 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
17 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.700 0
Charcot-Marie-Tooth Disease, Recessive Intermediate A
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
7 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.700 0
Charcot-Marie-Tooth disease, Type 4A, axonal form
CUI: C1843183
Disease: Charcot-Marie-Tooth disease, Type 4A, axonal form
3 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.700 0
NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
CUI: C4016973
Disease: NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
1 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.020 1.000 2 2010 2017
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010