DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE ×

Variants associated to the Gene: TTN ×

Results per page

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
rs267607156	TTN-AS1 ; TTN	1.000	0.120	2	178527121	missense variant	A/G	snv			1
rs281864928	TTN ; TTN-AS1	1.000	0.120	2	178527148	missense variant	A/C;G;T	snv	4.0E-06; 4.0E-06		1