DisGeNET - a database of gene-disease associations

List of associated variants

Abnormal aortic valve physiology, C4703464

Source: CLINVAR ×

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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
rs1569484124	ATP8 ; COX2 ; COX1 ; ATP6	0.925	0.080	MT	6925	frameshift variant	C/-	delins			2
rs1569484166	ATP6 ; COX1 ; ATP8 ; COX2 ; COX3	1.000		MT	7668	inframe insertion	-/CAC	delins			1
rs1569484123	ATP6 ; COX2 ; COX1 ; ATP8	1.000		MT	6905	inframe insertion	-/CTC	delins			1
rs1569484125	ATP6 ; COX2 ; COX1 ; ATP8	1.000		MT	6936	frameshift variant	A/-	del			1
rs1569484209	ATP6 ; COX3 ; ND3 ; COX2 ; ATP8	1.000		MT	8431	inframe insertion	-/CCA	ins			1
rs1569484114	COX1 ; COX2 ; ATP6 ; ATP8	1.000		MT	6809	inframe insertion	-/AAG	ins			1
rs1569484104	COX2 ; COX1 ; ATP6 ; ATP8	1.000		MT	6716	inframe insertion	-/GGG	delins			1
rs1569484116	COX2 ; COX1 ; ATP6 ; ATP8	1.000		MT	6858	frameshift variant	A/-	delins			1
rs1569484115	COX2 ; COX1 ; ATP8 ; ATP6	1.000		MT	6815	frameshift variant	T/-	delins			1
rs1569484165	COX3 ; ATP8 ; ATP6 ; COX1 ; COX2	1.000		MT	7661	protein altering variant	-/CCA	ins			1
rs1569484292	COX3 ; ND3 ; ND4 ; ATP6 ; ND4L	1.000		MT	9311	inframe insertion	-/GCA	ins			1
rs1569484300	ND4 ; ND4L ; ATP6 ; COX3 ; ND3	1.000		MT	9431	frameshift variant	-/A	ins			1