DisGeNET - a database of gene-disease associations

List of shared variants

Hypertrophic obstructive cardiomyopathy, C4551472

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
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
rs121964856	TNNT2	0.807	0.120	1	201365297	missense variant	C/A;T	snv			8
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