DisGeNET - a database of gene-disease associations

List of associated variants

3-Methylglutaconic aciduria type 2, C0574083

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
rs104894941	DNASE1L1 ; TAZ	0.925	0.120	X	154412129	stop gained	C/G	snv			2
rs727504327	DNASE1L1 ; TAZ	1.000	0.120	X	154413544	missense variant	G/A	snv			2
rs387907218	TAZ	1.000	0.120	X	154420676	missense variant	G/A;C	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
rs104894942	TAZ ; DNASE1L1	1.000	0.120	X	154413248	missense variant	C/A;T	snv			2
rs1060500044	DNASE1L1 ; TAZ	1.000	0.120	X	154413249	missense variant	G/A;T	snv			1
rs1569552731	DNASE1L1 ; TAZ	1.000	0.120	X	154413564	stop gained	C/T	snv			1
rs397515738	DNASE1L1 ; TAZ	1.000	0.120	X	154412184	stop gained	C/T	snv			1
rs1085307797	TAZ	1.000	0.120	X	154420094	missense variant	G/A	snv			1
rs132630277	TAZ	1.000	0.120	X	154420037	missense variant	G/A	snv			1
rs1557194488	TAZ	1.000	0.120	X	154420915	missense variant	A/G	snv			1
rs397515746	TAZ	1.000	0.120	X	154420038	missense variant	G/A	snv			1
rs397515747	TAZ	1.000	0.120	X	154420657	splice acceptor variant	G/A	snv			1
rs587776741	TAZ	1.000	0.120	X	154420211	splice acceptor variant	G/C	snv			1
rs781795144	TAZ	1.000	0.120	X	154419702	splice region variant	C/G;T	snv	5.5E-06	9.4E-06	1
rs104894937	TAZ ; DNASE1L1	1.000	0.120	X	154413549	missense variant	T/C	snv			1
rs397515739	TAZ ; DNASE1L1	1.000	0.120	X	154413525	missense variant	T/C	snv			1
rs397515740	TAZ ; DNASE1L1	1.000	0.120	X	154413504	missense variant	T/C	snv			1
rs397515741	TAZ ; DNASE1L1	1.000	0.120	X	154413507	missense variant	T/C	snv			1
rs878853654	TAZ ; DNASE1L1	1.000	0.120	X	154412203	missense variant	C/G	snv			1