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
rs193922680	ACTC1 ; LOC101928174	0.790	0.080	15	34793398	missense variant	C/T	snv	4.0E-06	7.0E-06	7
rs727504323	ACTC1 ; LOC101928174	1.000	0.040	15	34792105	missense variant	G/C	snv			1
rs727502886	ACTN2	0.925	0.040	1	236719007	missense variant	G/A	snv			3
rs200889953	ALPK3	1.000	0.040	15	84839087	stop gained	C/T	snv			1
rs745688425	ALPK3	1.000	0.040	15	84858461	frameshift variant	C/-	delins	1.1E-05	7.0E-06	1
rs1057517686	ATAD3A	0.827	0.120	1	1529299	missense variant	C/T	snv			5
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs1057518933	CASR	0.851	0.160	3	122284403	missense variant	G/A	snv			4
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			2
rs104894205	CSRP3	0.882	0.040	11	19188286	missense variant	A/G	snv	1.2E-05	5.6E-05	2
rs104894204	CSRP3	0.882	0.040	11	19188245	missense variant	A/C	snv			1
rs786204291	DSG2	1.000	0.040	18	31522152	missense variant	A/C;G	snv	4.0E-06; 1.6E-05		1
rs796051877	GAA	0.807	0.320	17	80110055	splice region variant	G/A	snv	4.0E-06		10
rs1057517105	GAA	0.882	0.160	17	80112655	missense variant	G/A	snv			1
rs199473684	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101399747	3 prime UTR variant	C/T	snv			3
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		2
rs28935197	GLA ; RPL36A-HNRNPH2	0.776	0.280	X	101398942	missense variant	T/C	snv	5.5E-06		2
rs727504348	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101397982	missense variant	C/T	snv			2
rs387906898	JPH2	0.925	0.040	20	44160293	missense variant	G/A	snv			1
rs587782951	JPH2	0.807	0.080	20	44160305	missense variant	G/T	snv			1
rs104894858	LAMP2	0.925	0.160	X	120442599	missense variant	C/T	snv			2
rs397516751	LAMP2	0.925	0.160	X	120446299	splice donor variant	TCAC/-	delins			2
rs727503118	LAMP2	0.925	0.160	X	120442650	stop gained	G/A;T	snv	9.8E-05		2
rs727503120	LAMP2	0.925	0.160	X	120456650	splice donor variant	C/T	snv			2