rs104894625, PMP22

N. diseases: 3
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.
Charcot-Marie-Tooth Disease, Type Ia (disorder)
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
6 0.851 0.120 17 15260663 missense variant G/A;T snv 0.810 1.000 1 1992 2004
Hereditary liability to pressure palsies
CUI: C0393814
Disease: Hereditary liability to pressure palsies
8 0.851 0.120 17 15260663 missense variant G/A;T snv 0.810 1.000 1 1998 2004
Mixed sensory-motor polyneuropathy
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
8 0.851 0.120 17 15260663 missense variant G/A;T snv 0.010 1.000 1 2004 2004