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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs8193036	IL17A	0.689	0.600	6	52185695	upstream gene variant	C/T	snv		0.72	21
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs225014	DIO2	0.695	0.400	14	80203237	missense variant	T/C	snv	0.41	0.39	22
rs267607161	TTR	0.742	0.360	18	31598580	missense variant	G/T	snv	4.0E-06	7.0E-06	16
rs12212067	FOXO3	0.716	0.320	6	108659993	intron variant	T/G	snv		0.14	20
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
rs138119149	AARS2 ; TMEM151B	0.807	0.280	6	44304512	missense variant	G/A	snv	2.1E-04	2.4E-04	11
rs121918079	TTR	0.790	0.280	18	31595143	missense variant	T/C	snv			10
rs121918097	TTR	0.790	0.280	18	31595137	missense variant	G/A	snv			10
rs11541796	TTR	0.807	0.280	18	31593011	missense variant	A/G	snv			9
rs121918082	TTR	0.827	0.280	18	31595244	missense variant	G/C	snv			6
rs387907339	CRYAB	0.882	0.280	11	111908967	missense variant	C/A;G	snv			4
rs1568523935	SLC25A42	0.776	0.240	19	19105656	stop gained	C/G	snv			20
rs766265889	TTN-AS1 ; TTN	0.827	0.240	2	178535508	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		11
rs113994099	POLG	0.827	0.240	15	89320883	missense variant	T/C	snv			10