rs281865065, FGD4

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 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 0.925 0.080 12 32633547 splice acceptor variant A/G snv 0.700 0
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
8 0.925 0.080 12 32633547 splice acceptor variant A/G snv 0.700 0