DisGeNET - a database of gene-disease associations

List of shared variants

Hypertrophic Cardiomyopathy, C0007194

Disease: Hypertrophic obstructive cardiomyopathy

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs76863441	PLA2G7	0.672	0.440	6	46709361	missense variant	C/A	snv	4.5E-03	1.3E-03	25
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
rs121918462	PTPN11	0.742	0.320	12	112450398	missense variant	C/T	snv			13
rs397507549	PTPN11	0.742	0.240	12	112489104	missense variant	C/A;G	snv			13
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
rs104894833	RPL36A-HNRNPH2 ; GLA	0.776	0.280	X	101403984	missense variant	C/G	snv	1.2E-04	1.9E-05	11
rs104894369	MYL2	0.807	0.080	12	110914287	missense variant	C/A;T	snv			10
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs60890628	LMNA	0.776	0.200	1	156138507	missense variant	C/T	snv	1.5E-04	1.0E-04	9
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		8
rs121913627	MYH7	0.851	0.080	14	23427657	missense variant	C/A;G;T	snv	4.0E-06		8
rs121964856	TNNT2	0.807	0.120	1	201365297	missense variant	C/A;T	snv			8
rs35049558	MYL2	0.851	0.040	12	110914287	frameshift variant	-/CT	ins	8.0E-06		8
rs1057517686	ATAD3A	0.827	0.120	1	1529299	missense variant	C/T	snv			7
rs121913630	MYH7	0.851	0.080	14	23425814	missense variant	G/A;C	snv	1.2E-05		7
rs45586240	TNNT2	0.827	0.080	1	201361989	missense variant	G/A;T	snv	4.0E-06		7
rs104894502	TPM1	0.807	0.120	15	63060915	missense variant	A/G;T	snv			6
rs1057519819	MAP2K1	0.851	0.240	15	66436750	missense variant	T/C	snv			6
rs116840805	SSUH2 ; CAV3	0.827	0.160	3	8745725	missense variant	C/T	snv			6
rs121908991	PRKAG2	0.807	0.120	7	151560610	missense variant	C/A;T	snv			6
rs121964858	TNNT2	0.807	0.120	1	201365244	missense variant	A/C;G;T	snv			6