rs104894080, GDAP1

N. diseases: 9
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 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 1.000 3 2003 2009
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
17 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0
Charcot-Marie-Tooth Disease, Recessive Intermediate A
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
7 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0
Peripheral axonal neuropathy
CUI: C1263857
Disease: Peripheral axonal neuropathy
12 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
32 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0
Sensory neuropathy
CUI: C0151313
Disease: Sensory neuropathy
15 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0
Serum alkaline phosphatase raised
CUI: C1314665
Disease: Serum alkaline phosphatase raised
6 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.010 1.000 1 2010 2010