DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: melanoma ×

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
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs2242652	TERT	0.724	0.400	5	1279913	intron variant	G/A	snv		0.18	16
rs139996880	TERT	0.882	0.120	5	1284538	intron variant	G/A	snv		0.12	3