DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 ×

Variants associated to the Gene: NDUFS8 ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121912639	MIR4691 ; MIR7113 ; NDUFS8	1.000		11	68033165	missense variant	C/T	snv	4.0E-06		1
rs121912638	MIR7113 ; MIR4691 ; NDUFS8	1.000		11	68033216	missense variant	G/A	snv	2.0E-05	4.2E-05	1
rs28939679	MIR7113 ; MIR4691 ; NDUFS8	0.925	0.120	11	68033147	missense variant	C/T	snv	8.1E-06		1
rs146766138	MIR7113 ; NDUFS8 ; MIR4691	1.000		11	68033140	missense variant	C/G;T	snv	4.0E-05		1
rs397514618	MIR7113 ; NDUFS8 ; MIR4691	1.000		11	68033000	missense variant	G/C	snv		7.0E-06	1
rs111033588	NDUFS8	1.000		11	68036293	missense variant	G/A	snv	1.2E-05	7.0E-06	1
rs397514617	NDUFS8	1.000		11	68036356	missense variant	C/A	snv			1