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
rs202247814	PCCA	1.000	0.080	13	100155090	missense variant	G/A	snv			2
rs745743737	CAVIN4			9	100585774	missense variant	C/G;T	snv	8.0E-06; 3.6E-05		1
rs199473684	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101399747	3 prime UTR variant	C/T	snv			3
rs397515870	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101400692	missense variant	G/C;T	snv			2
rs886039136	GLA ; RPL36A-HNRNPH2			X	101403885	frameshift variant	G/-;GG	delins			1
rs501192	CASP1	0.925	0.200	11	105029658	splice region variant	C/T	snv	0.17	0.15	3
rs561901401	MUC2 ; LOC107987157	1.000	0.040	11	1074959	non coding transcript exon variant	G/C;T	snv	1.8E-05		2
rs745428980	MUC2	1.000	0.040	11	1075743	non coding transcript exon variant	G/A;T	snv	8.2E-06; 4.1E-06		2
rs12212067	FOXO3	0.716	0.320	6	108659993	intron variant	T/G	snv		0.14	20
rs672601347	COL4A1	0.925	0.120	13	110179298	missense variant	C/G;T	snv			3
rs267607004	RBM20	0.925	0.040	10	110812304	missense variant	G/A	snv		1.4E-05	4
rs397516607	RBM20	0.925	0.040	10	110821356	missense variant	G/A	snv			4
rs1566147422	MYL2			12	110911146	frameshift variant	AG/-	del			1
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
rs751392310	MYL2			12	110919103	inframe deletion	CCT/-	delins		7.0E-06	1
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
rs387907339	CRYAB	0.882	0.280	11	111908967	missense variant	C/A;G	snv			4
rs202024436	CRYAB			11	111908969	splice acceptor variant	T/C	snv	3.6E-05	2.1E-05	1
rs397516686	CRYAB ; HSPB2-C11orf52 ; HSPB2			11	111911722	start lost	C/T	snv	6.7E-05	2.8E-05	1
rs786205436	SDHD	0.882	0.080	11	112088972	missense variant	A/G;T	snv			5
rs2043055	IL18	0.925	0.080	11	112160901	intron variant	A/G;T	snv			3
rs111033559	PLN ; CEP85L	0.925	0.040	6	118558946	missense variant	C/T	snv			4
rs397516784	CEP85L ; PLN	0.925	0.080	6	118558957	inframe deletion	AGA/-	delins		1.4E-05	4
rs111033560	PLN ; CEP85L	0.807	0.040	6	118559037	stop gained	T/G	snv	1.6E-05		9