DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Tuberous Sclerosis ×

Variants associated to the Gene: TSC2 ×

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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
rs45517169	TSC2	0.925	0.120	16	2062982	stop gained	C/T	snv			2
rs45517201	TSC2	1.000	0.120	16	2070531	missense variant	T/C	snv			1
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
rs45517259	TSC2	0.925	0.120	16	2076142	missense variant	G/A	snv			3
rs45517278	TSC2	1.000	0.120	16	2079090	missense variant	G/T	snv			1
rs45517305	TSC2	0.851	0.240	16	2081646	stop gained	C/A;T	snv			5
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
rs45517423	TSC2 ; PKD1	1.000	0.120	16	2088569	missense variant	C/T	snv	1.5E-03	1.5E-03	1
rs752603642	TSC2	0.925	0.160	16	2072888	missense variant	C/T	snv	4.0E-06		2
rs754504918	TSC2	1.000	0.120	16	2071816	missense variant	G/A	snv			1
rs764288120	TSC2	1.000	0.120	16	2061983	missense variant	T/C	snv	4.0E-06		1
rs993614997	TSC2	1.000	0.120	16	2081714	missense variant	C/T	snv		2.1E-05	1