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
rs398123226	RPL36A-HNRNPH2 ; GLA	0.882	0.160	X	101398403	missense variant	G/C;T	snv			3
rs104894833	RPL36A-HNRNPH2 ; GLA	0.776	0.280	X	101403984	missense variant	C/G	snv	1.2E-04	1.9E-05	11
rs376477806	LOC105369937 ; MYBPC1	0.925	0.040	12	101648107	missense variant	G/A	snv	8.0E-06		2
rs778924100	TXNRD1	0.925	0.040	12	104318981	stop gained	C/G;T	snv	2.0E-05; 4.0E-06		2
rs759589565	TXNRD1	0.925	0.040	12	104321227	missense variant	A/G	snv	4.0E-05	3.5E-05	2
rs104894630	SCO1	0.882	0.120	17	10692805	missense variant	G/A	snv			4
rs587777220	SCO1	0.882	0.120	17	10692932	missense variant	C/T	snv	1.2E-05	7.0E-06	4
rs397516406	MYL2	0.925	0.040	12	110911093	missense variant	C/T	snv			2
rs104894369	MYL2	0.807	0.080	12	110914287	missense variant	C/A;T	snv			10
rs35049558	MYL2	0.851	0.040	12	110914287	frameshift variant	-/CT	ins	8.0E-06		8
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
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
rs397507550	PTPN11	0.882	0.160	12	112489106	missense variant	G/A;C	snv			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
rs746536347	ATAD3B	0.882	0.040	1	1490639	missense variant	C/T	snv	2.6E-05	3.5E-05	3
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs267606979	PRKAG2	0.882	0.080	7	151560560	missense variant	A/G	snv			3
rs121908991	PRKAG2	0.807	0.120	7	151560610	missense variant	C/A;T	snv			6
rs121908989	PRKAG2	0.882	0.080	7	151564199	missense variant	T/A;C	snv	4.0E-06		4
rs1057517686	ATAD3A	0.827	0.120	1	1529299	missense variant	C/T	snv			7
rs60890628	LMNA	0.776	0.200	1	156138507	missense variant	C/T	snv	1.5E-04	1.0E-04	9
rs267607158	TTN ; TTN-AS1	0.851	0.040	2	178740125	stop gained	G/A	snv			4
rs28933405	TTN	0.882	0.080	2	178785999	missense variant	C/A;T	snv	2.0E-05		3