DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Tuberous Sclerosis ×

Variants associated to the Gene: TSC2 ×

Results per page

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
rs45514100	TSC2	0.925	0.160	16	2079093	stop gained	C/G;T	snv	4.0E-06		2
rs45516293	TSC2	0.925	0.120	16	2084965	missense variant	A/C;G	snv			2
rs45517169	TSC2	0.925	0.120	16	2062982	stop gained	C/T	snv			2
rs45517234	TSC2	0.925	0.160	16	2074251	stop gained	C/T	snv			2
rs45517258	TSC2	0.925	0.120	16	2076141	missense variant	C/G;T	snv			2
rs45517308	TSC2	0.925	0.120	16	2081734	stop gained	C/A;G;T	snv	8.0E-06		2
rs45517382	TSC2	0.925	0.120	16	2086834	missense variant	A/G	snv			2
rs752603642	TSC2	0.925	0.160	16	2072888	missense variant	C/T	snv	4.0E-06		2
rs45517259	TSC2	0.925	0.120	16	2076142	missense variant	G/A	snv			3
rs137854218	TSC2 ; PKD1	0.925	0.120	16	2088293	inframe insertion	CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA	delins			3
rs45507199	TSC2 ; PKD1	0.925	0.120	16	2088294	missense variant	G/A;C;T	snv			3
rs28934872	TSC2	0.851	0.200	16	2070571	missense variant	G/A	snv			5
rs45469298	TSC2	0.851	0.200	16	2070570	missense variant	C/G;T	snv			5
rs45517305	TSC2	0.851	0.240	16	2081646	stop gained	C/A;T	snv			5