DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant neoplasm of lung ×

Variants associated to the Gene: TERT ×

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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
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs2735940	TERT	0.689	0.400	5	1296371	upstream gene variant	A/G	snv		0.49	25
rs2853677	TERT	0.724	0.240	5	1287079	3 prime UTR variant	G/A	snv		0.63	19
rs2242652	TERT	0.724	0.400	5	1279913	intron variant	G/A	snv		0.18	16
rs61748181	TERT	0.827	0.120	5	1294051	missense variant	C/T	snv	2.2E-02	2.2E-02	10
rs7726159	TERT	0.790	0.160	5	1282204	intron variant	C/A	snv		0.29	10
rs2075786	TERT	0.790	0.360	5	1266195	intron variant	A/G	snv		0.55	8
rs144779807	TERT	0.827	0.120	5	1268529	missense variant	C/A;T	snv	4.0E-06; 4.0E-05		7
rs4246742	TERT	0.827	0.120	5	1267241	intron variant	T/A	snv		0.23	5
rs112290073	TERT	0.882	0.080	5	1285917	intron variant	G/A	snv		7.8E-03	4
rs138895564	TERT	0.882	0.080	5	1271959	intron variant	C/T	snv		5.1E-03	4
rs2853672	TERT	0.882	0.080	5	1292868	intron variant	C/A;G	snv			4
rs10054203	TERT	0.882	0.080	5	1279849	intron variant	G/A;C;T	snv			3
rs757915567	TERT	0.882	0.080	5	1294574	synonymous variant	C/T	snv	9.8E-06		3