DisGeNET - a database of gene-disease associations

List of associated variants

Hypertrophic Cardiomyopathy, C0007194

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
rs104894833	RPL36A-HNRNPH2 ; GLA	0.776	0.280	X	101403984	missense variant	C/G	snv	1.2E-04	1.9E-05	11
rs28935197	GLA ; RPL36A-HNRNPH2	0.776	0.280	X	101398942	missense variant	T/C	snv	5.5E-06		10
rs587782958	MYBPC3	0.790	0.120	11	47333552	splice region variant	C/T	snv	1.7E-05		10
rs121913628	MYH7	0.763	0.160	14	23424059	missense variant	C/G;T	snv			10
rs3218713	MYH7	0.763	0.160	14	23431468	missense variant	C/A;T	snv			10
rs104894369	MYL2	0.807	0.080	12	110914287	missense variant	C/A;T	snv			10
rs193922680	ACTC1 ; LOC101928174	0.790	0.080	15	34793398	missense variant	C/T	snv	4.0E-06	7.0E-06	9
rs60890628	LMNA	0.776	0.200	1	156138507	missense variant	C/T	snv	1.5E-04	1.0E-04	9
rs267606908	MYH7	0.763	0.160	14	23424112	missense variant	T/C	snv	4.0E-06	7.0E-06	9
rs3218714	MYH7	0.763	0.160	14	23429279	missense variant	G/A;C	snv			9
rs371898076	MYH7	0.763	0.160	14	23426833	missense variant	C/T	snv	8.0E-06	4.9E-05	9
rs397516127	MYH7	0.763	0.160	14	23426834	missense variant	G/A;C	snv			9
rs397516171	MYH7	0.763	0.160	14	23424041	missense variant	C/G;T	snv			9
rs397516264	MYH7	0.763	0.160	14	23431602	missense variant	C/T	snv	4.0E-06		9
rs111033560	PLN ; CEP85L	0.807	0.040	6	118559037	stop gained	T/G	snv	1.6E-05		9
rs121912683	SLC25A4	0.851	0.200	4	185145020	missense variant	C/A	snv	4.0E-06	7.0E-06	9
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs2106809	ACE2	0.827	0.120	X	15599938	intron variant	A/G	snv		0.19	8
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		8
rs142000963	LMNA	0.807	0.240	1	156138719	missense variant	C/A;T	snv	1.2E-03		8
rs121913627	MYH7	0.851	0.080	14	23427657	missense variant	C/A;G;T	snv	4.0E-06		8
rs35049558	MYL2	0.851	0.040	12	110914287	frameshift variant	-/CT	ins	8.0E-06		8
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		8
rs397516354	TNNI3	0.790	0.120	19	55154094	missense variant	C/A;G;T	snv	4.0E-05		8
rs121964856	TNNT2	0.807	0.120	1	201365297	missense variant	C/A;T	snv			8