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
rs747522089	TNNI3	1.000	0.040	19	55154820	missense variant	C/T	snv	1.6E-05	4.2E-05	1
rs1199713333	CACNA1C	0.925	0.040	12	2593318	missense variant	C/T	snv	4.0E-06		2
rs751224055	CACNA1C	0.925	0.040	12	2674574	missense variant	C/A;T	snv	5.2E-06; 5.2E-06		2
rs779782995	HDAC9	0.925	0.040	7	18590438	missense variant	A/G	snv	1.7E-05		2
rs376477806	LOC105369937 ; MYBPC1	0.925	0.040	12	101648107	missense variant	G/A	snv	8.0E-06		2
rs1060501436	MYH7	0.925	0.040	14	23424815	missense variant	A/G	snv			2
rs1064793206	MYH7	0.925	0.040	14	23424993	missense variant	G/A	snv			2
rs1489940065	MYH7	0.925	0.040	14	23433188	missense variant	G/A	snv	2.8E-05	7.7E-05	2
rs730880751	MYH7	0.925	0.040	14	23424816	missense variant	C/A;G	snv			2
rs397516406	MYL2	0.925	0.040	12	110911093	missense variant	C/T	snv			2
rs730881082	TNNI3	0.925	0.040	19	55151850	missense variant	T/A	snv			2
rs77615401	TNNI3	0.925	0.040	19	55156239	missense variant	G/A	snv	1.4E-03	6.8E-03	2
rs45501500	TNNT2	0.925	0.040	1	201363390	missense variant	C/T	snv			2
rs199476322	TPM1	0.925	0.040	15	63064141	missense variant	A/G	snv		7.0E-06	2
rs148395034	TRIM63	0.925	0.040	1	26058482	stop gained	G/A;C	snv	7.0E-04; 5.6E-05		2
rs759589565	TXNRD1	0.925	0.040	12	104321227	missense variant	A/G	snv	4.0E-05	3.5E-05	2
rs778924100	TXNRD1	0.925	0.040	12	104318981	stop gained	C/G;T	snv	2.0E-05; 4.0E-06		2
rs746536347	ATAD3B	0.882	0.040	1	1490639	missense variant	C/T	snv	2.6E-05	3.5E-05	3
rs750745310	DNM1L ; YARS2	0.882	0.040	12	32743390	missense variant	C/T	snv			3
rs1057517105	GAA	0.882	0.160	17	80112655	missense variant	G/A	snv			3
rs730880460	LRRC56 ; HRAS	0.882	0.120	11	533877	missense variant	C/A;T	snv			3
rs143697995	MRPL44	0.882	0.040	2	223959821	missense variant	T/C;G	snv	5.6E-05; 2.2E-04		3
rs1352376969	MYBPC3	0.882	0.080	11	47341155	missense variant	G/A;C	snv			3
rs1412710023	MYBPC3	0.925	0.040	11	47343549	missense variant	T/A	snv	4.1E-06		3
rs397515985	MYBPC3	0.882	0.040	11	47335886	missense variant	G/T	snv	1.3E-04	2.0E-04	3