rs782190413, SURF1

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.
SURF1-related Charcot-Marie-Tooth disease type 4
5 0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05 0.800 1.000 1 2013 2013
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05 0.700 1.000 5 2002 2014