DisGeNET - a database of gene-disease associations

List of associated variants

Hypertrophic obstructive cardiomyopathy, C4551472

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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs60890628	LMNA	0.776	0.200	1	156138507	missense variant	C/T	snv	1.5E-04	1.0E-04	9
rs121964856	TNNT2	0.807	0.120	1	201365297	missense variant	C/A;T	snv			8
rs1057517686	ATAD3A	0.827	0.120	1	1529299	missense variant	C/T	snv			7
rs45586240	TNNT2	0.827	0.080	1	201361989	missense variant	G/A;T	snv	4.0E-06		7
rs121964858	TNNT2	0.807	0.120	1	201365244	missense variant	A/C;G;T	snv			6
rs121964857	TNNT2	0.851	0.080	1	201359245	missense variant	G/A	snv	3.6E-04	4.3E-04	4
rs730881098	TNNT2	0.882	0.040	1	201365613	missense variant	A/C	snv			3
rs746536347	ATAD3B	0.882	0.040	1	1490639	missense variant	C/T	snv	2.6E-05	3.5E-05	3
rs148395034	TRIM63	0.925	0.040	1	26058482	stop gained	G/A;C	snv	7.0E-04; 5.6E-05		2
rs45501500	TNNT2	0.925	0.040	1	201363390	missense variant	C/T	snv			2
rs139517732	TTN	0.851	0.040	2	178802273	missense variant	C/T	snv	4.4E-05	1.4E-05	4
rs267607158	TTN ; TTN-AS1	0.851	0.040	2	178740125	stop gained	G/A	snv			4
rs143697995	MRPL44	0.882	0.040	2	223959821	missense variant	T/C;G	snv	5.6E-05; 2.2E-04		3
rs28933405	TTN	0.882	0.080	2	178785999	missense variant	C/A;T	snv	2.0E-05		3
rs915012109	SMYD1	0.925	0.040	2	88096710	missense variant	T/C	snv	4.0E-06	7.0E-06	3
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
rs116840805	SSUH2 ; CAV3	0.827	0.160	3	8745725	missense variant	C/T	snv			6
rs267607124	TNNC1	0.807	0.080	3	52451410	missense variant	G/A;C;T	snv	4.0E-05; 4.0E-06; 1.3E-04		6
rs267607123	TNNC1	0.882	0.080	3	52452222	missense variant	A/T	snv	4.0E-06	7.0E-06	4
rs397514616	TNNC1	0.851	0.120	3	52452217	missense variant	C/A;T	snv			4
rs1467607281	OPA1	0.882	0.040	3	193645736	missense variant	T/C	snv		2.1E-05	3
rs267607126	TNNC1	0.882	0.080	3	52451810	missense variant	C/T	snv			3
rs754945616	RASA1	0.882	0.120	5	87268639	missense variant	G/T	snv	4.2E-06		3