DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Tuberous Sclerosis ×

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
rs118203542	TSC1	0.851	0.200	9	132906053	stop gained	G/A	snv			4
rs118203631	TSC1	0.851	0.200	9	132903785	stop gained	G/A	snv			4
rs118203434	TSC1	0.925	0.120	9	132921367	stop gained	G/A	snv			3
rs1301051974	TSC1	0.925	0.120	9	132905820	synonymous variant	A/G	snv	4.0E-06		3
rs1064794132	TSC1	1.000	0.120	9	132903649	splice donor variant	A/T	snv			2
rs118203673	TSC1	0.925	0.160	9	132902703	stop gained	G/A	snv			2
rs1554815914	TSC1	1.000	0.120	9	132905874	frameshift variant	TCCCGCA/GC	delins			1
rs185159716	TSC1	1.000	0.120	9	132906751	missense variant	A/G	snv	4.0E-06	7.0E-06	1
rs537585211	TSC1	1.000	0.120	9	132897194	missense variant	C/A	snv	2.0E-05	7.7E-05	1
rs865808591	TSC1	1.000	0.120	9	132904435	missense variant	A/G	snv			1