Source: CURATED

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: rs1554768709
rs1554768709
SURF1 ; SURF2
1.000 9 133354824 missense variant C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1998 2016
dbSNP: rs1554768709
rs1554768709
SURF1 ; SURF2
1.000 9 133354824 missense variant C/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 7 1998 2016
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: rs782061187
rs782061187
SURF1
1.000 9 133351945 frameshift variant -/A delins 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 7 1998 2016
dbSNP: rs782061187
rs782061187
SURF1
1.000 9 133351945 frameshift variant -/A delins 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1998 2016
dbSNP: rs782316919
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1998 2016
dbSNP: rs782316919
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1998 2016
dbSNP: rs782623477
rs782623477
SURF1
1.000 0.120 9 133352509 stop gained G/A snv 1.1E-04 7.0E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 6 1999 2014
dbSNP: rs782190413
rs782190413
SURF1
0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 5 2002 2014
dbSNP: rs782316919
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 5 1998 2013
dbSNP: rs782349178
rs782349178
SURF1
1.000 0.120 9 133352135 frameshift variant TG/- delins 1.4E-05 2.8E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 5 2006 2013
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 5 1998 2015
dbSNP: rs121918657
rs121918657
SURF1
0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 3 1998 2013
dbSNP: rs782007828
rs782007828
SURF1
1.000 0.120 9 133352139 splice acceptor variant CTCT/-;CT delins 4.5E-06; 4.5E-06 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 3 2012 2014
dbSNP: rs782490558
rs782490558
SURF1
0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 2 2013 2015
dbSNP: rs147816470
rs147816470
SURF1
1.000 0.120 9 133352696 stop gained G/A snv 8.0E-06 2.1E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2015 2015
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 1.000 1 2016 2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2016 2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		0.700 1.000 1 2016 2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2016 2016