DisGeNET - a database of gene-disease associations

List of associated variants

Impaired exercise tolerance, C0424551

Source: ALL

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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
rs201431517	MTFMT	0.827	0.200	15	65021533	missense variant	G/A	snv	3.5E-04	5.7E-04	17
rs760187215	MYH7	1.000	0.040	14	23431859	missense variant	C/T	snv	8.0E-06		6
rs207459997	ND6 ; CYTB	0.925		MT	15615	missense variant	G/A	snv			3
rs207459998	CYTB ; ND6	1.000		MT	14846	missense variant	G/A	snv			2
rs207460000	CYTB ; ND6	1.000		MT	15150	stop gained	G/A	snv			2
rs207460001	CYTB ; ND6			MT	15197	missense variant	T/C	snv			2
rs121434476	ND4 ; COX3 ; ND4L ; ND3 ; TRNG			MT	10010	non coding transcript exon variant	T/C	snv			1