DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathy, Dilated, C0007193

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
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs104894655	TCAP	0.925	0.120	17	39665762	stop gained	C/T	snv		1.4E-05	3
rs199476301	TPM1	0.851	0.040	15	63042874	missense variant	G/A;T	snv	4.0E-06		6
rs199476317	TPM1	0.827	0.080	15	63062263	missense variant	G/A	snv			6
rs104894501	TPM1	0.851	0.040	15	63044030	stop gained	G/A;C;T	snv	4.0E-06		5
rs104894505	TPM1	0.882	0.040	15	63044072	missense variant	G/A	snv			4
rs199476314	TPM1	0.882	0.040	15	63060930	missense variant	T/G	snv			4
rs397516373	TPM1	0.925	0.080	15	63059663	missense variant	G/A	snv			4
rs758264780	TPM1	0.882	0.040	15	63044029	frameshift variant	G/-	delins			4
rs1212453165	TPM1	0.925	0.040	15	63043751	missense variant	G/A	snv	6.8E-06		3
rs199476320	TPM1	0.925	0.040	15	63064121	missense variant	C/G;T	snv			3
rs397516364	TPM1	0.925	0.080	15	63042852	missense variant	T/G	snv			3
rs754428169	TJP1	0.925	0.120	15	29761670	missense variant	G/A	snv	8.0E-06	2.1E-05	3
rs397516369	TPM1	1.000		15	63057081	missense variant	C/G	snv			2
rs397517065	ACTC1 ; LOC101928174			15	34792471	missense variant	G/A	snv			2
rs397517071	ACTC1 ; LOC101928174	1.000	0.040	15	34792092	missense variant	A/G	snv			2
rs727504379	ACTC1 ; LOC101928174	1.000	0.040	15	34791238	missense variant	A/G	snv			2
rs199476310	TPM1			15	63057019	missense variant	T/C	snv			1
rs199476311	TPM1			15	63059667	missense variant	G/A	snv			1
rs397516363	TPM1			15	63044075	missense variant	G/A	snv			1
rs397516370	TPM1			15	63057085	missense variant	A/G	snv			1
rs397516371	TPM1			15	63059611	missense variant	G/C	snv			1
rs551837344	SYNM			15	99129975	missense variant	T/C	snv	4.9E-05		1
rs727504389	TPM1			15	63059604	missense variant	A/T	snv			1
rs876657662	TPM1			15	63060872	stop gained	G/A	snv			1