rs121913595, MPZ

N. diseases: 11
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 2J
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
7 0.742 0.160 1 161306785 missense variant G/A;T snv 0.810 1.000 5 1999 2009
Charcot-Marie-Tooth Disease, Type Ib
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
51 0.742 0.160 1 161306785 missense variant G/A;T snv 0.800 1.000 20 1993 2008
Charcot-Marie-Tooth disease, Type 2I
CUI: C3888087
Disease: Charcot-Marie-Tooth disease, Type 2I
14 0.742 0.160 1 161306785 missense variant G/A;T snv 0.800 1.000 5 1998 2004
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
CUI: C4722277
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
9 0.742 0.160 1 161306785 missense variant G/A;T snv 0.800 1.000 3 1996 2004
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.742 0.160 1 161306785 missense variant G/A;T snv 0.760 1.000 6 1999 2004
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.742 0.160 1 161306785 missense variant G/A;T snv 0.710 1.000 1 2010 2010
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.742 0.160 1 161306785 missense variant G/A;T snv 0.700 1.000 7 1998 2015
Charcot-Marie-Tooth Disease, Dominant Intermediate D
CUI: C1843075
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate D
6 0.742 0.160 1 161306785 missense variant G/A;T snv 0.700 0
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
4 0.742 0.160 1 161306785 missense variant G/A;T snv 0.700 0
Roussy-Levy Syndrome (disorder)
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
5 0.742 0.160 1 161306785 missense variant G/A;T snv 0.700 0
Congenital hypomyelinating neuropathy
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
10 0.742 0.160 1 161306785 missense variant G/A;T snv 0.020 1.000 2 2004 2004