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
rs36212066	MYBPC3	0.882	0.080	11	47332275	intron variant	AGGGAAGCCATCCAGGCTGAGAGGG/-	delins	4.0E-03	8.9E-04	3
rs121964857	TNNT2	0.851	0.080	1	201359245	missense variant	G/A	snv	3.6E-04	4.3E-04	3
rs143139258	MYL2	0.882	0.080	12	110913097	missense variant	T/G	snv	2.0E-04	2.9E-04	4
rs397516050	MYBPC3	0.925	0.080	11	47350077	missense variant	C/T	snv	6.5E-05	1.0E-04	2
rs375882485	MYBPC3	0.827	0.080	11	47342698	missense variant	G/A	snv	4.0E-05	9.8E-05	4
rs202141173	MYH7	0.882	0.080	14	23424842	missense variant	C/T	snv	2.4E-05	9.1E-05	3
rs730881115	TNNT2	1.000	0.080	1	201364336	frameshift variant	G/-	delins		9.1E-05	1
rs56851164	LMNA	1.000	0.080	1	156135940	missense variant	T/A	snv	5.6E-05	8.4E-05	1
rs587782962	MYH7	0.925	0.080	14	23422267	missense variant	C/T	snv	6.4E-05	7.7E-05	2
rs199728019	MYBPC3	1.000	0.080	11	47341995	missense variant	C/T	snv	1.2E-04	7.0E-05	1
rs1025692267	MYBPC3	1.000	0.080	11	47343342	intron variant	C/T	snv		5.6E-05	1
rs730880565	MYBPC3	1.000	0.080	11	47337722	missense variant	G/A	snv	1.4E-04	5.6E-05	1
rs371898076	MYH7	0.763	0.160	14	23426833	missense variant	C/T	snv	8.0E-06	4.9E-05	9
rs727503195	MYBPC3	0.925	0.080	11	47341991	missense variant	C/T	snv	3.0E-05	4.9E-05	2
rs397516347	TNNI3	0.851	0.120	19	55154157	missense variant	C/T	snv		4.2E-05	3
rs397516074	MYBPC3	0.827	0.120	11	47348424	missense variant	C/T	snv	1.7E-05	4.2E-05	4
rs200411226	MYBPC3	0.851	0.080	11	47342718	missense variant	C/T	snv	2.4E-05	4.2E-05	4
rs371061770	MYBPC3	0.882	0.080	11	47333610	missense variant	G/A;C	snv	6.6E-05	4.2E-05	1
rs727504235	MYBPC3	0.925	0.080	11	47333742	missense variant	C/T	snv	5.5E-05	3.5E-05	1
rs397515916	MYBPC3	0.925	0.080	11	47342574	splice region variant	T/A	snv	1.3E-05	2.8E-05	2
rs45611033	MYH7	0.925	0.080	14	23422292	missense variant	G/A	snv	2.4E-05	2.8E-05	2
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	3
rs387907267	MYBPC3	0.851	0.120	11	47335120	stop gained	G/A	snv	1.2E-05	2.8E-05	3
rs886039030	MYH7	0.925	0.080	14	23426045	missense variant	C/T	snv	4.0E-06	2.8E-05	1
rs730880138	MYBPC3	1.000	0.080	11	47334008	missense variant	G/A	snv		2.8E-05	1