rs1553259662, MPZ

N. diseases: 7
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 Ib
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
51 0.827 0.200 1 161306821 missense variant A/G snv 0.700 1.000 20 1993 2008
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.827 0.200 1 161306821 missense variant A/G snv 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011
Heart Block
CUI: C0018794
Disease: Heart Block
7 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011
Peripheral demyelinating neuropathy
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
14 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011
Tonic Pupil
CUI: C0040416
Disease: Tonic Pupil
1 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011