DisGeNET - a database of gene-disease associations

Source: CLINVAR

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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs869312057	TTN-AS1 ; TTN	2	178567948	stop gained	C/A	snv			1
rs727504499	TTN-AS1 ; TTN	2	178632294	stop gained	G/A	snv		1.4E-05	1
rs869312056	TTN-AS1 ; TTN	2	178571825	frameshift variant	-/T	delins			1
rs869312050	TTN-AS1 ; TTN	2	178608783	frameshift variant	-/TTTTC	delins			1
rs397517624	TTN-AS1 ; TTN	2	178599145	splice donor variant	C/T	snv			1
rs397517628	TTN-AS1 ; TTN	2	178597955	frameshift variant	C/-	delins			1
rs869312077	TTN-AS1 ; TTN	2	178570015	frameshift variant	-/T	ins			1
rs770029258	TTN-AS1 ; TTN	2	178759167	stop gained	T/A;C	snv	4.0E-06		1
rs869312109	TTN-AS1 ; TTN	2	178599695	frameshift variant	T/-	del			1
rs727504655	TTN-AS1 ; TTN	2	178575857	frameshift variant	A/-	del			1
rs727505014	TTN-AS1 ; TTN	2	178562529	frameshift variant	C/-	delins			1
rs869312043	TTN-AS1 ; TTN	2	178636098	stop gained	G/A	snv			1
rs727503567	TTN-AS1 ; TTN	2	178574811	stop gained	C/T	snv			1
rs770767998	TTN-AS1 ; TTN	2	178629441	stop gained	G/A;C;T	snv	8.1E-06		1
rs397517664	TTN-AS1 ; TTN	2	178581650	stop gained	G/T	snv	4.0E-06		1
rs1553691320	TTN-AS1 ; TTN	2	178609440	frameshift variant	T/-	del			1
rs869312111	TTN-AS1 ; TTN	2	178592653	frameshift variant	A/-	del			1
rs869312110	TTN-AS1 ; TTN	2	178598876	frameshift variant	C/-	delins			1
rs1408345511	TTN-AS1 ; TTN	2	178740175	frameshift variant	G/-	delins	4.0E-06		1
rs397517679	TTN-AS1 ; TTN	2	178576783	frameshift variant	CTT/-;CTTTCTT	delins	4.0E-06		1
rs869312062	TTN-AS1 ; TTN	2	178558492	stop gained	C/T	snv			1
rs869312080	TTN-AS1 ; TTN	2	178559672	frameshift variant	AG/-	delins			1
rs72646831	TTN-AS1 ; TTN	2	178597751	stop gained	G/A	snv			1
rs869312108	TTN-AS1 ; TTN	2	178613825	stop gained	C/T	snv			1
rs869312055	TTN-AS1 ; TTN	2	178590794	stop gained	G/A	snv	4.0E-06		1