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
rs397516269	MYH7	0.882	0.080	14	23431426	missense variant	A/G	snv	4.0E-06		4
rs727503260	MYH7	0.851	0.080	14	23425403	missense variant	C/G;T	snv			4
rs143139258	MYL2	0.882	0.080	12	110913097	missense variant	T/G	snv	2.0E-04	2.9E-04	4
rs199474703	MYL3	0.851	0.120	3	46860702	missense variant	C/T	snv	8.0E-06		4
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		4
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
rs727504245	TNNT2	0.851	0.080	1	201365261	missense variant	G/A	snv	1.6E-05	2.1E-05	4
rs727504246	TNNT2	0.827	0.080	1	201363330	missense variant	G/A	snv			4
rs199476315	TPM1	0.827	0.080	15	63061723	missense variant	G/A	snv			4
rs199476317	TPM1	0.827	0.080	15	63062263	missense variant	G/A	snv			4
rs397516373	TPM1	0.925	0.080	15	63059663	missense variant	G/A	snv			4
rs121913647	MHRT ; MYH7	0.925	0.160	14	23417173	missense variant	C/A;G;T	snv	1.6E-05		3
rs193922390	MHRT ; MYH7	0.882	0.080	14	23415651	missense variant	C/G;T	snv	4.0E-06; 2.0E-05		3
rs45544633	MHRT ; MYH7	1.000	0.080	14	23417174	missense variant	G/A	snv			3
rs112738974	MYBPC3	0.882	0.080	11	47338519	splice donor variant	C/A;G;T	snv			3
rs121909377	MYBPC3	0.882	0.080	11	47333238	stop gained	C/A;T	snv	4.8E-06; 1.9E-05		3
rs193922384	MYBPC3	0.882	0.080	11	47332126	inframe insertion	-/CAGACATAGATGCCCCCG	delins		2.8E-05	3
rs193922386	MYBPC3	0.882	0.080	11	47346365	stop gained	G/A;C;T	snv	4.9E-06		3
rs2856655	MYBPC3	0.851	0.080	11	47337534	missense variant	C/G;T	snv	2.0E-05		3
rs36212066	MYBPC3	0.882	0.080	11	47332275	intron variant	AGGGAAGCCATCCAGGCTGAGAGGG/-	delins	4.0E-03	8.9E-04	3
rs368765949	MYBPC3	0.882	0.080	11	47332244	stop gained	C/A;T	snv		7.0E-06	3
rs376395543	MYBPC3	0.882	0.080	11	47351507	splice acceptor variant	T/C	snv	2.7E-05	2.1E-05	3
rs387907267	MYBPC3	0.851	0.120	11	47335120	stop gained	G/A	snv	1.2E-05	2.8E-05	3
rs397515889	MYBPC3	0.925	0.080	11	47343547	frameshift variant	G/-;GG	delins			3