DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Neoplastic Syndromes, Hereditary ×

Variants associated to the Gene: TSC1 ×

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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
rs118203478	TSC1	0.882	0.200	9	132911492	frameshift variant	-/A;AA	delins			5
rs118203682	TSC1	0.882	0.160	9	132902640	stop gained	G/A	snv			5
rs118203434	TSC1	0.925	0.120	9	132921367	stop gained	G/A	snv			3
rs1064794132	TSC1	1.000	0.120	9	132903649	splice donor variant	A/T	snv			2
rs118203728	TSC1	1.000	0.120	9	132897544	stop gained	G/A	snv			2
rs1114167619	TSC1			9	132900810	stop gained	G/A	snv			1
rs1114167620	TSC1			9	132921844	frameshift variant	-/G	delins			1
rs118203451	TSC1			9	132912382	frameshift variant	AT/-	delins			1
rs118203477	TSC1			9	132911493	frameshift variant	AG/-	delins			1
rs118203564	TSC1			9	132905869	frameshift variant	CT/-	del			1
rs118203727	TSC1			9	132897547	stop gained	G/A	snv			1
rs1554819932	TSC1			9	132923466	frameshift variant	TG/A	delins			1