DisGeNET - a database of gene-disease associations

List of associated variants

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder), C1861863

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
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs104894502	TPM1	0.807	0.120	15	63060915	missense variant	A/G;T	snv			6
rs199476317	TPM1	0.827	0.080	15	63062263	missense variant	G/A	snv			6
rs199476315	TPM1	0.827	0.080	15	63061723	missense variant	G/A	snv			5
rs199476306	TPM1	0.882	0.080	15	63044100	missense variant	C/T	snv			3
rs104894504	TPM1	0.925	0.080	15	63057028	missense variant	T/C	snv			2
rs730881151	TPM1	1.000	0.080	15	63042891	missense variant	G/T	snv	2.0E-05		1