DisGeNET - a database of gene-disease associations

List of shared variants

Cardiomyopathy, Hypertrophic, Familial, C0949658

Disease: Hyperlipoproteinemia Type IIa

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
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		8
rs121909374	MYBPC3	0.790	0.120	11	47342578	stop gained	C/A;G	snv	1.3E-05		7
rs104894502	TPM1	0.807	0.120	15	63060915	missense variant	A/G;T	snv			6
rs121964858	TNNT2	0.807	0.120	1	201365244	missense variant	A/C;G;T	snv			6
rs368861241	TNNI3	0.851	0.120	19	55154095	missense variant	G/A	snv	4.0E-05	7.0E-06	4
rs1240681880	DNAH8	0.882	0.160	6	38722870	missense variant	G/A	snv		2.1E-05	3
rs267607127	TNNI3	0.882	0.120	19	55151860	missense variant	C/T	snv			3
rs750083965	DLGAP4-AS1 ; MYL9	0.882	0.160	20	36548073	missense variant	G/A	snv	4.0E-06		3
rs374691452	DNAH8	0.925	0.120	6	38723443	missense variant	T/A;C	snv	4.2E-06; 2.5E-05		2