DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Gene: TTN ×

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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
rs539470256	LOC101927055 ; TTN-AS1 ; TTN	1.000	0.080	2	178779033	missense variant	C/T	snv	1.3E-04	7.7E-05	1
rs375029799	LOC101927055 ; TTN-AS1 ; TTN	1.000	0.040	2	178776873	missense variant	C/T	snv	2.4E-05	2.1E-05	1
rs564777385	TTN	1.000	0.040	2	178800635	missense variant	C/G;T	snv	3.6E-05		1
rs149061352	TTN	1.000	0.080	2	178785717	missense variant	G/A;T	snv	4.4E-05; 4.0E-06		1
rs139517732	TTN	0.851	0.040	2	178802273	missense variant	C/T	snv	4.4E-05	1.4E-05	1
rs267607155	TTN	0.925	0.040	2	178782980	missense variant	A/G;T	snv			1
rs267607157	TTN	1.000	0.040	2	178785990	missense variant	G/A	snv			1
rs28933405	TTN	0.882	0.080	2	178785999	missense variant	C/A;T	snv	2.0E-05		1
rs267599092	TTN-AS1 ; LOC101927055 ; TTN	1.000	0.040	2	178779043	missense variant	C/T	snv			1
rs778634417	TTN-AS1 ; TTN	1.000	0.160	2	178633467	missense variant	C/T	snv	1.6E-05	2.1E-05	1
rs756924372	TTN-AS1 ; TTN	1.000	0.080	2	178534461	missense variant	G/A;C	snv	4.0E-06		1
rs1003158162	TTN-AS1 ; TTN	1.000	0.080	2	178531968	missense variant	G/A	snv	4.0E-06		1
rs55713867	TTN-AS1 ; TTN	1.000	0.080	2	178575658	missense variant	A/G	snv			1
rs369098292	TTN-AS1 ; TTN	1.000	0.040	2	178572742	missense variant	G/A	snv	4.0E-06	1.4E-05	1
rs1204056923	TTN-AS1 ; TTN	1.000	0.040	2	178590160	missense variant	C/T	snv		1.4E-05	1
rs374713701	TTN-AS1 ; TTN	1.000	0.040	2	178593660	missense variant	C/A;T	snv	4.0E-06; 8.1E-06		1
rs1383995916	TTN-AS1 ; TTN	1.000	0.080	2	178589623	missense variant	A/T	snv		7.0E-06	1
rs267607156	TTN-AS1 ; TTN	1.000	0.120	2	178527121	missense variant	A/G	snv			1
rs281864908	TTN-AS1 ; TTN	1.000	0.040	2	178738108	missense variant	C/G;T	snv	4.0E-06		1
rs576644663	TTN-AS1 ; TTN	1.000	0.080	2	178770479	missense variant	G/A;C	snv	4.0E-06; 8.0E-06		1
rs1336054298	TTN-AS1 ; TTN	1.000	0.080	2	178590298	missense variant	A/G	snv		1.4E-05	1
rs370004591	TTN-AS1 ; TTN ; LOC101927055	1.000	0.080	2	178776789	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs199684560	TTN ; TTN-AS1	1.000	0.080	2	178633512	missense variant	G/A	snv	7.3E-05	4.2E-05	1
rs397517769	TTN ; TTN-AS1	1.000	0.080	2	178542408	missense variant	C/T	snv	5.6E-05	1.4E-05	1
rs373526624	TTN ; TTN-AS1	1.000	0.080	2	178607095	missense variant	C/T	snv	7.0E-04	1.6E-04	1