rs863224454, SH3TC2

N. diseases: 2
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 4C
27 0.925 0.080 5 149028145 missense variant AC/CT mnv 0.710 1.000 2 2003 2013
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 0.925 0.080 5 149028145 missense variant AC/CT mnv 0.700 1.000 6 2003 2017