DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathy, Hypertrophic, Familial, C0949658

Source: CLINVAR ×

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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
rs1025692267	MYBPC3	1.000	0.080	11	47343342	intron variant	C/T	snv		5.6E-05	1
rs104893748	MYL3	0.925	0.080	3	46859511	missense variant	T/C	snv			2
rs104893750	MYL3	0.882	0.080	3	46859529	missense variant	C/T	snv	1.2E-05	1.4E-05	3
rs104894369	MYL2	0.807	0.080	12	110914287	missense variant	C/A;T	snv			3
rs104894502	TPM1	0.807	0.120	15	63060915	missense variant	A/G;T	snv			1
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	3
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		4
rs104894725	TNNI3	0.882	0.080	19	55151851	missense variant	T/C;G	snv			1
rs104894727	TNNI3	0.882	0.080	19	55151881	missense variant	C/A;T	snv	4.0E-06		4
rs104894729	TNNI3	0.827	0.080	19	55151892	missense variant	C/A;G;T	snv			4
rs104894828	RPL36A-HNRNPH2 ; GLA	0.882	0.160	X	101398467	missense variant	C/A;T	snv			3
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		2
rs1057517773	MYH7	1.000	0.080	14	23431641	missense variant	C/T	snv			1
rs1060499604	MYBPC3	0.851	0.080	11	47339323	splice donor variant	C/A;T	snv	4.0E-06		4
rs1060501443	MYH7	1.000	0.080	14	23427855	missense variant	A/G	snv			1
rs1060501448	MYH7	1.000	0.080	14	23425792	missense variant	A/G	snv			1
rs1060501475	MYBPC3	1.000	0.080	11	47333647	frameshift variant	C/-	delins			1
rs1060505018	MYH7	1.000	0.080	14	23424817	missense variant	C/A;G;T	snv			1
rs1064793202	MYBPC3	0.925	0.080	11	47333622	frameshift variant	-/TT	delins			2
rs111437311	MYBPC3	0.925	0.080	11	47342576	splice donor variant	A/G;T	snv			2
rs111683277	MYBPC3	0.925	0.080	11	47333556	splice donor variant	C/G;T	snv	4.2E-06		2
rs111729952	MYBPC3	0.925	0.080	11	47337796	splice acceptor variant	T/A;C;G	snv			2
rs112738974	MYBPC3	0.882	0.080	11	47338519	splice donor variant	C/A;G;T	snv			3
rs1131691685	MYH7	1.000	0.080	14	23427672	missense variant	G/A;C	snv			1
rs113358486	MYBPC3	0.925	0.080	11	47333555	splice donor variant	A/C;G;T	snv	8.4E-06		2