DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: ND4L ×

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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	Num. diseases
rs199476133	ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6	0.742	0.320	MT	8993	missense variant	T/C;G	snv	14
rs199476138	ND3 ; COX3 ; ND4 ; ND4L ; ATP6	0.882	0.120	MT	9185	missense variant	T/C	snv	4
rs1057516064	ND3 ; COX3 ; ATP6 ; ND4L ; ND4	0.925	0.120	MT	9237	missense variant	G/A	snv	3
rs267606891	ND4 ; COX3 ; ND3 ; ND4L	0.882	0.200	MT	10197	missense variant	G/A	snv	3
rs199476135	ND4 ; ND4L ; ND3 ; COX3 ; ATP6	0.882	0.120	MT	9176	missense variant	T/C;G	snv	3
rs794726857	ATP6 ; ATP8 ; ND4L ; ND3 ; COX3 ; ND4	0.925	0.200	MT	8969	missense variant	G/A	snv	2
rs267606614	ATP6 ; ND4 ; COX3 ; ND3 ; ND4L	0.925	0.120	MT	9531	frameshift variant	-/C	delins	2
rs267606612	ATP6 ; ND4 ; ND3 ; COX3 ; ND4L	1.000	0.080	MT	9480	inframe deletion	TCGCAGGATTTTTCT/-	delins	2
rs387906422	ATP8 ; COX3 ; ATP6 ; ND3 ; COX2 ; ND4L	0.925	0.040	MT	8528	start lost	T/C	snv	2
rs199476136	ATP8 ; ND3 ; COX3 ; ND4 ; ATP6 ; ND4L	0.925	0.120	MT	8851	missense variant	T/C	snv	2
rs267606890	COX3 ; ND4 ; ND3 ; ND4L	0.925	0.120	MT	10191	missense variant	T/C	snv	2
rs199476117	ND3 ; ND4 ; ND4L ; COX3	0.925	0.120	MT	10158	missense variant	T/C	snv	2
rs267606615	ND4 ; COX3 ; ATP6 ; ND3 ; ND4L	0.925	0.080	MT	9379	stop gained	G/A	snv	2
rs1556423547	ND4L ; ATP8 ; ND3 ; ATP6 ; COX3 ; ND4	1.000	0.120	MT	8839	missense variant	G/A;C	snv	2
rs1569484288	ATP6 ; ND4L ; ND4 ; ND3 ; COX3	1.000	0.080	MT	9273	protein altering variant	-/ATC	ins	1
rs387906423	ATP8 ; ND4L ; COX3 ; COX2 ; ND3 ; ATP6	1.000	0.200	MT	8617	frameshift variant	-/T	delins	1
rs1569484221	COX2 ; ATP6 ; COX3 ; ND3 ; ATP8 ; ND4L			MT	8560	inframe insertion	-/CAC	delins	1
rs1569484234	COX2 ; ND4L ; ND3 ; COX3 ; ATP6 ; ATP8	1.000	0.040	MT	8750	protein altering variant	-/AAA	delins	1
rs587776444	COX3 ; ND3 ; ATP6 ; ATP8 ; ND4 ; ND4L	1.000	0.120	MT	8989	missense variant	G/C	snv	1
rs1569484292	COX3 ; ND3 ; ND4 ; ATP6 ; ND4L	1.000		MT	9311	inframe insertion	-/GCA	ins	1
rs587780529	COX3 ; ND3 ; ND4L ; ND4	1.000	0.120	MT	10134	missense variant	C/A	snv	1
rs1569484299	COX3 ; ND4 ; ND4L ; ND3 ; ATP6	1.000	0.080	MT	9429	protein altering variant	-/CCC	ins	1
rs587776437	ND3 ; ATP6 ; COX3 ; ND4 ; ND4L	1.000	0.120	MT	9478	missense variant	T/C	snv	1
rs1556423632	ND3 ; COX3 ; ND4 ; ATP6 ; ND4L	1.000	0.120	MT	9191	missense variant	T/C	snv	1
rs267606613	ND3 ; ND4L ; COX3 ; ND4	1.000	0.080	MT	9952	stop gained	G/A	snv	1