rs104894621, 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.
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.790 0.080 17 15239575 missense variant G/A snv 0.720 1.000 18 1993 2004
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.790 0.080 17 15239575 missense variant G/A snv 0.700 1.000 20 1992 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.790 0.080 17 15239575 missense variant G/A snv 0.700 1.000 20 1992 2015
Charcot-Marie-Tooth Disease, Type Ia (disorder)
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
24 0.790 0.080 17 15239575 missense variant G/A snv 0.700 1.000 14 1992 2004
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.790 0.080 17 15239575 missense variant G/A snv 0.700 1.000 5 1993 2001
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
CUI: C4016264
Disease: DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
6 0.790 0.080 17 15239575 missense variant G/A snv 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 2004 2009
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 1998 1999
Congenital hypomyelinating neuropathy
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
10 0.790 0.080 17 15239575 missense variant G/A snv 0.010 1.000 1 2004 2004