DisGeNET - a database of gene-disease associations

List of shared variants

Neoplastic Syndromes, Hereditary, C0027672

Disease: Bloom Syndrome

Source: CLINVAR ×

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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
rs113993962	BLM	1.000	0.120	15	90766923	frameshift variant	ATCTGA/TAGATTC	delins	2.0E-04		2
rs148969222	BLM	1.000	0.120	15	90803721	splice donor variant	G/A;T	snv	4.0E-06; 2.4E-05		2
rs200389141	BLM	0.776	0.320	15	90761015	stop gained	C/A;T	snv	4.1E-06; 1.4E-04	1.7E-04	2
rs367543014	BLM	1.000	0.120	15	90790747	frameshift variant	C/-	delins		1.4E-05	2
rs367543024	BLM	1.000	0.120	15	90769537	frameshift variant	AG/-	del		7.0E-06	2
rs367543029	BLM	1.000	0.120	15	90794311	missense variant	G/A;C	snv	4.0E-06; 8.0E-06		2
rs373525781	BLM	1.000	0.120	15	90763016	stop gained	C/T	snv	4.4E-05	8.4E-05	2
rs780379121	BLM	1.000	0.120	15	90794175	frameshift variant	G/-	del	1.2E-05	2.1E-05	2