Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs782190413
rs782190413
SURF1
0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related Charcot-Marie-Tooth disease type 4 		0.800 1.000 1 2013 2013
dbSNP: rs121918658
rs121918658
SURF1
0.925 0.120 9 133352074 missense variant A/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 7 1998 2012
dbSNP: rs28933402
rs28933402
SURF1
0.925 0.120 9 133353893 missense variant C/T snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 7 1998 2012
dbSNP: rs398122806
rs398122806
SURF1
0.925 0.120 9 133352518 missense variant A/G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 7 1998 2012
dbSNP: rs782024654
rs782024654
SURF1 ; SURF2
1.000 0.120 9 133354713 missense variant A/G snv 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 7 1998 2012
dbSNP: rs782033035
rs782033035
SURF1
1.000 0.120 9 133353894 missense variant C/T snv 1.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 7 1998 2012
dbSNP: rs1319811735
rs1319811735
SURF1
1.000 0.120 9 133352493 missense variant A/G snv 4.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0