DisGeNET - a database of gene-disease associations

List of shared variants

Cardiomyopathy, Dilated, C0007193

Disease: CARDIOMYOPATHY, DILATED, 1S

Source: CLINVAR ×

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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
rs606231324	MYH7	0.851	0.080	14	23428505	missense variant	C/G;T	snv			5
rs143139258	MYL2	0.882	0.080	12	110913097	missense variant	T/G	snv	2.0E-04	2.9E-04	4
rs397516089	MYH7	0.827	0.080	14	23429807	missense variant	C/G;T	snv			4
rs121913642	MYH7	0.925	0.080	14	23427879	missense variant	A/G	snv			3
rs137853197	NEXN	0.925	0.040	1	77942756	missense variant	A/G	snv	7.2E-05	1.0E-04	3
rs267607003	RBM20	0.925	0.040	10	110812310	missense variant	C/A;G;T	snv			3
rs397516254	MYH7 ; MHRT	0.925	0.160	14	23413809	missense variant	C/T	snv			3
rs727503253	MYH7	1.000	0.040	14	23424119	missense variant	G/A	snv	4.0E-06		2