DisGeNET - a database of gene-disease associations

List of associated variants

Hypertrophic Cardiomyopathy, C0007194

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
rs76863441	PLA2G7	0.672	0.440	6	46709361	missense variant	C/A	snv	4.5E-03	1.3E-03	1
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
rs190765116	MYBPC3	1.000	0.040	11	47336000	stop gained	C/A;T	snv	5.4E-04	1.2E-04	1
rs60890628	LMNA	0.776	0.200	1	156138507	missense variant	C/T	snv	1.5E-04	1.0E-04	3
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
rs587782962	MYH7	0.925	0.080	14	23422267	missense variant	C/T	snv	6.4E-05	7.7E-05	2
rs104894205	CSRP3	0.882	0.040	11	19188286	missense variant	A/G	snv	1.2E-05	5.6E-05	2
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
rs387906958	NDUFAF1	0.925	0.040	15	41394987	missense variant	G/A	snv	3.2E-05	4.2E-05	1
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
rs397515916	MYBPC3	0.925	0.080	11	47342574	splice region variant	T/A	snv	1.3E-05	2.8E-05	2
rs727504288	MYBPC3	0.925	0.080	11	47337550	inframe deletion	CTT/-	delins		2.8E-05	2
rs730880870	MYH7	0.925	0.040	14	23429037	missense variant	C/A;T	snv	1.2E-05	2.8E-05	1
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
rs193922384	MYBPC3	0.882	0.080	11	47332126	inframe insertion	-/CAGACATAGATGCCCCCG	delins		2.8E-05	3
rs397516005	MYBPC3	0.827	0.120	11	47333566	stop gained	G/A	snv	8.4E-06	2.8E-05	3
rs397515963	MYBPC3	0.851	0.080	11	47337729	frameshift variant	-/C	delins		2.1E-05	4