DisGeNET - a database of gene-disease associations

List of associated variants

Asymmetric Septal Hypertrophy, C0205700

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
rs587782958	MYBPC3	0.790	0.120	11	47333552	splice region variant	C/T	snv	1.7E-05		10
rs397516354	TNNI3	0.790	0.120	19	55154094	missense variant	C/A;G;T	snv	4.0E-05		8
rs397516347	TNNI3	0.851	0.120	19	55154157	missense variant	C/T	snv		4.2E-05	5
rs121913638	MYH7	0.851	0.120	14	23425980	missense variant	C/T	snv			4
rs138886989	RPL36A-HNRNPH2 ; GLA	0.925	0.160	X	101401763	missense variant	T/C	snv	1.9E-04	2.8E-05	2
rs1234386636	DNAH8	1.000	0.120	6	38723365	missense variant	G/A	snv			1
rs376685205	GAA	1.000	0.120	17	80105089	missense variant	G/A;T	snv	1.3E-04; 1.6E-05		1