rs121913603, MPZ

N. diseases: 12
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 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.800 1.000 20 1993 2008
Charcot-Marie-Tooth Disease, Dominant Intermediate D
CUI: C1843075
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate D
6 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
Charcot-Marie-Tooth disease, Type 2I
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
14 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
Charcot-Marie-Tooth disease, Type 2J
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
7 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
4 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
Roussy-Levy Syndrome (disorder)
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
5 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
Auditory neuropathy
CUI: C1852271
Disease: Auditory neuropathy
20 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.010 1.000 1 2003 2003
Auditory neuropathy spectrum disorder
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
17 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.010 1.000 1 2003 2003
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.010 1.000 1 2003 2003
Hereditary peripheral neuropathy
CUI: C0392553
Disease: Hereditary peripheral neuropathy
2 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.010 1.000 1 2003 2003