rs104894158, EGR2

N. diseases: 5
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.
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
4 0.851 0.080 10 62813835 missense variant A/T snv 0.800 1.000 2 1998 2012
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 0.851 0.080 10 62813835 missense variant A/T snv 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
Congenital hypomyelinating neuropathy
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
10 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
Tremor
CUI: C0040822
Disease: Tremor
52 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009