rs119483085, NDRG1

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 4D
CUI: C1832334
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
2 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.730 1.000 3 2007 2017
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.010 1.000 1 2013 2013
Hereditary Motor and Sensory Neuropathies
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
11 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.010 1.000 1 2013 2013
Peripheral demyelinating neuropathy
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
14 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.010 1.000 1 2007 2007