DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Hereditary Myopathy with Early Respiratory Failure ×

Variants associated to the Gene: TTN-AS1 ×

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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
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
rs869320740	TTN-AS1 ; TTN	0.851	0.200	2	178546102	missense variant	A/G	snv	4.1E-06		4
rs753334568	TTN-AS1 ; TTN	0.882	0.200	2	178546041	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs869320741	TTN-AS1 ; TTN	0.925	0.200	2	178546051	missense variant	A/G	snv			2
rs1559187287	TTN-AS1 ; TTN	1.000	0.160	2	178550221	frameshift variant	-/TT	delins			1
rs786205367	TTN-AS1 ; TTN	1.000	0.160	2	178546050	missense variant	C/A;G	snv			1
rs869320743	TTN-AS1 ; TTN	1.000	0.160	2	178545878	missense variant	G/C	snv			1
rs1560689563	TTN ; TTN-AS1	1.000	0.160	2	178722307	missense variant	A/G	snv			1
rs869320739	TTN ; TTN-AS1	1.000	0.160	2	178546110	missense variant	G/C;T	snv			1
rs869320742	TTN ; TTN-AS1	1.000	0.160	2	178546049	missense variant	C/G	snv			1