rs121908287, FIG4

N. diseases: 3
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 4J
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
11 0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03 0.820 1.000 8 2007 2018
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03 0.700 1.000 5 2007 2014
AMYOTROPHIC LATERAL SCLEROSIS 11
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
6 0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03 0.700 1.000 1 2017 2017