DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathies, C0878544

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
rs4746172	VCL			10	74096084	intron variant	C/T	snv		0.73	3
rs8193036	IL17A	0.689	0.600	6	52185695	upstream gene variant	C/T	snv		0.72	21
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1799821	CPT2	0.827	0.200	1	53210776	missense variant	G/A	snv	0.49	0.46	8
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs225014	DIO2	0.695	0.400	14	80203237	missense variant	T/C	snv	0.41	0.39	22
rs1056892	CBR3-AS1 ; CBR3	0.882	0.160	21	36146408	missense variant	G/A	snv	0.37	0.39	6
rs10927875	ZBTB17	1.000	0.040	1	15972817	intron variant	C/T	snv		0.29	3
rs4641	LMNA	0.851	0.120	1	156137743	splice region variant	C/T	snv	0.26	0.21	6
rs501192	CASP1	0.925	0.200	11	105029658	splice region variant	C/T	snv	0.17	0.15	3
rs1799822	CPT2	0.925	0.080	1	53213557	missense variant	A/G	snv	0.16	0.15	4
rs12212067	FOXO3	0.716	0.320	6	108659993	intron variant	T/G	snv		0.14	20
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs4149018	SLCO1B1	1.000	0.080	12	21138627	intron variant	T/G	snv		4.3E-02	2
rs12582717	SLCO1B1			12	21143872	intron variant	C/G	snv		4.1E-02	1
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs144983062	ITGA7	1.000	0.080	12	55693209	missense variant	C/T	snv	4.3E-03	3.4E-03	2
rs28383481	SLC22A5	1.000	0.160	5	132393688	missense variant	G/A	snv	3.2E-03	3.4E-03	2
rs151266052	SDHA	0.925	0.120	5	240448	missense variant	C/T	snv	6.0E-04	2.4E-03	3
rs199865688	MYBPC3	0.925	0.080	11	47337496	missense variant	C/T	snv	1.5E-03	1.2E-03	4