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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1057518905	DPM3	1	155140104	missense variant	A/T	snv			3
rs4746172	VCL	10	74096084	intron variant	C/T	snv		0.73	3
rs1334828551	MUL1	1	20500800	missense variant	A/G	snv	4.0E-06	1.4E-05	2
rs1343372308	MYH7 ; MHRT	14	23413792	missense variant	C/G	snv		7.0E-06	2
rs1393142163	CTNNA3	10	67521867	missense variant	T/C	snv			2
rs267607577	LMNA	1	156136352	frameshift variant	GCACGCAC/-;GCACGCACGCAC	delins			2
rs368200299	TTN-AS1 ; TTN	2	178620285	stop gained	G/A;T	snv	4.9E-06		2
rs371855540	MHRT ; MYH7	14	23415095	missense variant	C/T	snv	2.0E-05	3.5E-05	2
rs45516091	MYH7	14	23431608	missense variant	G/A	snv	1.2E-05	7.0E-06	2
rs727504466	TTN-AS1 ; TTN	2	178591326	frameshift variant	T/-	del			2
rs727504799	TTN ; TTN-AS1	2	178609683	splice donor variant	C/G	snv			2
rs746365549	TTN	2	178782573	missense variant	C/A;T	snv	8.0E-06		2
rs760185784	DSC2	18	31089533	missense variant	T/C	snv	4.0E-06		2
rs869312054	TTN ; TTN-AS1	2	178593566	splice donor variant	A/G	snv		1.4E-05	2
rs876657670	TTN ; TTN-AS1	2	178560622	stop gained	C/A;T	snv			2
rs1024095026	ABCC9	12	21887879	stop gained	G/A	snv	1.2E-05		1
rs1057519457	SCN1B	19	35033599	missense variant	A/T	snv			1
rs1060500235	TNNT2	1	201365657	missense variant	T/C;G	snv			1
rs12582717	SLCO1B1	12	21143872	intron variant	C/G	snv		4.1E-02	1
rs1286964261	EIF1AD ; BANF1	11	66003356	missense variant	G/A	snv		7.0E-06	1
rs141735183	MYH7	14	23420222	stop gained	C/A	snv	8.2E-06	7.0E-06	1
rs1442549853	MYO15A	17	18162600	missense variant	G/A	snv	4.0E-06		1
rs148515772	EMD	X	154380902	missense variant	G/A	snv	8.2E-05	8.5E-05	1
rs1554398705	FLNC	7	128842906	frameshift variant	-/C	delins			1
rs1555142963	PKP2	12	32822477	frameshift variant	TCCTGCTTCGACTGCCAAAACAT/-	delins			1