DisGeNET - a database of gene-disease associations

List of shared variants

Cardiomyopathy, Dilated, C0007193

Disease: 3-Methylglutaconic aciduria type 2

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
rs1557194525	TAZ	1.000	0.120	X	154420961	frameshift variant	C/-	del			3
rs104894942	TAZ ; DNASE1L1	1.000	0.120	X	154413248	missense variant	C/A;T	snv			2
rs387907218	TAZ	1.000	0.120	X	154420676	missense variant	G/A;C	snv			2
rs727504327	DNASE1L1 ; TAZ	1.000	0.120	X	154413544	missense variant	G/A	snv			2
rs727504394	TAZ	1.000	0.120	X	154420666	frameshift variant	TG/-	delins			2
rs727504431	TAZ	1.000	0.120	X	154420212	missense variant	G/T	snv			2