DisGeNET - a database of gene-disease associations

List of shared variants

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2, C3151443

Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1

Source: ALL

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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			5
rs34094720	TERT	0.882	0.040	5	1293652	missense variant	G/A;T	snv	3.3E-03; 6.0E-06		3
rs776981958	TERT	0.925		5	1279370	missense variant	T/C	snv	1.6E-04	1.3E-04	2