rs1222150652, SH3TC2

N. diseases: 1
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 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 1.000 0.080 5 149008894 frameshift variant TCATAGCCTTC/- delins 8.0E-06 7.0E-06 0.700 0