DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathy, Familial Idiopathic, C1449563

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
rs2306969	LOC101928844 ; FUT3	0.925	0.040	19	5851790	intron variant	A/G	snv		0.76	4
rs7986131	LMO7	1.000	0.040	13	75849112	missense variant	T/C	snv	0.72	0.71	1
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs6660685	HSPB7 ; CLCNKA	1.000	0.040	1	16020493	intron variant	A/G	snv		0.70	1
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs1805105	AXIN1	0.776	0.280	16	346264	synonymous variant	A/G	snv	0.61	0.69	11
rs3747517	IFIH1	0.732	0.360	2	162272314	missense variant	T/C	snv	0.68	0.68	13
rs4796793	STAT3	0.716	0.320	17	42390192	upstream gene variant	G/C	snv		0.67	16
rs1071646	TPM1	1.000	0.040	15	63059641	splice region variant	C/A	snv	0.67	0.65	1
rs6738	TPM1	1.000	0.040	15	63071702	3 prime UTR variant	C/T	snv		0.64	1
rs3124591	NOTCH1	0.827	0.120	9	136495945	3 prime UTR variant	C/T	snv		0.62	6
rs1739843	HSPB7	0.882	0.040	1	16016759	intron variant	T/C	snv		0.62	4
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs4652	LGALS3	0.752	0.200	14	55138318	missense variant	A/C	snv	4.1E-06; 0.45	0.57	12
rs2505568		0.851	0.160	10	36522408	non coding transcript exon variant	T/A	snv		0.56	4
rs1892028	TNNT2	1.000	0.040	1	201367513	non coding transcript exon variant	G/A	snv		0.53	1
rs1884444	IL23R ; C1orf141	0.637	0.600	1	67168129	missense variant	G/T	snv	0.52	0.51	34
rs56165849	LDB3	1.000	0.040	10	86681952	intron variant	A/G	snv		0.50	1
rs3763317	BTNL2	1.000	0.040	6	32409011	upstream gene variant	C/T	snv		0.49	2
rs1009977	LGALS3	1.000	0.040	14	55136284	intron variant	T/G	snv		0.48	2
rs1990760	IFIH1	0.672	0.480	2	162267541	missense variant	C/T	snv	0.50	0.45	33
rs9268402	TSBP1 ; TSBP1-AS1	0.827	0.200	6	32373576	intron variant	G/A	snv		0.45	5
rs670957	ACTC1 ; LOC101928174	0.925	0.080	15	34797231	intron variant	G/A	snv		0.45	2
rs2781667	MED23 ; ARG1	0.851	0.080	6	131574004	3 prime UTR variant	C/T	snv		0.45	4