rs104894708, PRX

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.
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.710 1.000 5 2001 2016
Peripheral demyelinating neuropathy
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
14 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.700 1.000 5 2001 2016
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.700 1.000 2 2004 2004
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
8 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.700 0
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.010 1.000 1 2004 2004