DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathy, Dilated, 1y ×

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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
rs199476315	TPM1	0.827	0.080	15	63061723	missense variant	G/A	snv			4
rs199476317	TPM1	0.827	0.080	15	63062263	missense variant	G/A	snv			4
rs104894501	TPM1	0.851	0.040	15	63044030	stop gained	G/A;C;T	snv	4.0E-06		1
rs104894505	TPM1	0.882	0.040	15	63044072	missense variant	G/A	snv			1
rs199476319	TPM1	0.925	0.040	15	63062615	missense variant	A/G	snv			1
rs886037905	TPM1	1.000	0.040	15	63060895	missense variant	G/A;C	snv			1