rs104894619, PMP22

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.
Hereditary liability to pressure palsies
CUI: C0393814
Disease: Hereditary liability to pressure palsies
11 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.750 1.000 5 1998 2015
Charcot-Marie-Tooth Disease, Type Ia (disorder)
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
24 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.710 1.000 15 1992 2004
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.710 1.000 1 2000 2000
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE
CUI: C4016716
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE
1 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.040 1.000 4 2003 2011
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.030 1.000 3 2003 2011
Mixed sensory-motor polyneuropathy
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
8 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.010 1.000 1 2015 2015
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.010 1.000 1 2003 2003
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.010 1.000 1 2003 2003