DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Neoplasms ×

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	73
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	46
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	40
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs2735940	TERT	0.689	0.400	5	1296371	upstream gene variant	A/G	snv		0.49	14
rs2075786	TERT	0.790	0.360	5	1266195	intron variant	A/G	snv		0.55	8
rs2736118	TERT	0.882	0.120	5	1260080	intron variant	T/C	snv		0.33	4