DisGeNET - a database of gene-disease associations

List of associated variants

Ventricular hypertrophy, C0340279

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
rs80338701	PMM2	0.776	0.360	16	8811088	stop gained	C/A;T	snv	4.4E-05; 5.4E-06		14
rs180177039	BRAF	0.851	0.160	7	140778006	missense variant	T/A;C;G	snv			12
rs190521996	PMM2	0.790	0.320	16	8811660	missense variant	T/C	snv	2.9E-04	4.1E-04	12
rs60890628	LMNA	0.776	0.200	1	156138507	missense variant	C/T	snv	1.5E-04	1.0E-04	9
rs727503503	TNNI3	0.827	0.120	19	55154070	missense variant	C/T	snv			5
rs786204707	PKHD1	0.925	0.200	6	52043636	stop gained	C/T	snv			4
rs104894851	GLA ; RPL36A-HNRNPH2	0.925	0.200	X	101398920	stop gained	G/T	snv			3
rs104894852	GLA ; RPL36A-HNRNPH2	0.925	0.200	X	101397871	missense variant	T/C	snv			3
rs1057518952	PKHD1	1.000	0.080	6	52024728	frameshift variant	-/C	delins			3