DisGeNET - a database of gene-disease associations

List of associated variants

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9, C1861065

Source: INFERRED ×

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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
rs1213930919	TTN-AS1 ; TTN	0.882	0.120	2	178577785	stop gained	G/A	snv			9
rs869178171	TTN-AS1 ; TTN	0.790	0.200	2	178563475	stop gained	C/A	snv			7
rs574660186	TTN ; TTN-AS1	0.807	0.200	2	178579702	stop gained	G/A;C	snv	1.6E-05	3.5E-05	7
rs1553543413	TTN-AS1 ; TTN	0.807	0.200	2	178553783	frameshift variant	-/T	delins			6
rs794729340	TTN-AS1 ; TTN	0.807	0.200	2	178570991	frameshift variant	TCTT/-	delins			6
rs869312099	TTN-AS1 ; TTN	0.807	0.200	2	178738361	splice acceptor variant	C/T	snv	4.1E-06	1.4E-05	6
rs28933405	TTN	0.882	0.080	2	178785999	missense variant	C/A;T	snv	2.0E-05		1