rs104894621, PMP22

N. diseases: 4
Source: BEFREE ×
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)
27 0.790 0.080 17 15239575 missense variant G/A snv 0.720 1.000 2 1993 2004
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
95 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 2004 2009
Neuropathy
CUI: C0442874
Disease: Neuropathy
75 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 1998 1999
Congenital hypomyelinating neuropathy
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
9 0.790 0.080 17 15239575 missense variant G/A snv 0.010 1.000 1 2004 2004