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: 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: 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: 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: rs1410388157
rs1410388157
SURF1 ; SURF2
1.000 0.120 9 133356415 frameshift variant -/GCAGCCC delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0
dbSNP: rs1554768246
rs1554768246
SURF1
1.000 0.120 9 133352134 frameshift variant -/T delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0
dbSNP: rs1554768333
rs1554768333
SURF1
1.000 0.120 9 133352565 frameshift variant CT/- delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0
dbSNP: rs782316919
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related Charcot-Marie-Tooth disease type 4 		0.700 0
dbSNP: rs782316919
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs782316919
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 0
dbSNP: rs782316919
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.700 0
dbSNP: rs782316919
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.700 0
dbSNP: rs782316919
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.700 0
dbSNP: rs782490558
rs782490558
SURF1
0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs782490558
rs782490558
SURF1
0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.700 0
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.700 0
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related Charcot-Marie-Tooth disease type 4 		0.700 0
dbSNP: rs864309500
rs864309500
SURF1
1.000 9 133352094 frameshift variant AG/- delins
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related Charcot-Marie-Tooth disease type 4 		0.700 0
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: rs1391748504
rs1391748504
SURF1
1.000 0.120 9 133352143 splice acceptor variant C/G snv 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0
dbSNP: rs782726390
rs782726390
SURF1 ; SURF2
1.000 9 133354959 splice acceptor variant T/C snv 8.0E-06
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related Charcot-Marie-Tooth disease type 4 		0.700 0
dbSNP: rs781934508
rs781934508
SURF1
1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 0