DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 ×

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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
rs199422294	TERT	0.827	0.160	5	1280216	missense variant	C/T	snv			4
rs1060502990	TERT	0.925	0.040	5	1294549	frameshift variant	-/G	delins			2
rs121918665	TERT	0.925	0.120	5	1264541	missense variant	C/G	snv	4.0E-06		2
rs1554038257	TERT	0.925	0.040	5	1255333	frameshift variant	GA/-	delins			2
rs1554042899	TERT	0.925	0.040	5	1293837	frameshift variant	AG/-	delins			2
rs1554043139	TERT	0.925	0.040	5	1294810	stop gained	C/G;T	snv			2
rs199422301	TERT	0.882	0.120	5	1271156	missense variant	G/A	snv		7.0E-06	2
rs776981958	TERT	0.925		5	1279370	missense variant	T/C	snv	1.6E-04	1.3E-04	2
rs199422299	TERT	0.925	0.120	5	1278765	missense variant	G/C	snv			1
rs765566930	TERT	1.000		5	1260508	missense variant	C/T	snv			1
rs770066110	TERT	1.000		5	1272247	stop gained	G/A;T	snv	5.3E-05; 4.0E-06		1
rs797046042	TERT	1.000		5	1279431	missense variant	C/G;T	snv	6.5E-06; 6.5E-06		1
rs878855300	TERT	1.000		5	1279323	stop gained	G/A	snv			1