DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: RAD50 ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs587781576	RAD50	5	132579953	stop gained	C/G;T	snv			1
rs775069541	RAD50	5	132618277	stop gained	T/A;G	snv	8.0E-06		1
rs786202187	RAD50	5	132618112	frameshift variant	A/-	delins		7.0E-06	1
rs768522804	RAD50	5	132609294	frameshift variant	TG/-	del	8.0E-06		1
rs1060501949	RAD50	5	132609340	frameshift variant	AAAGA/-	delins			1
rs1281337925	RAD50	5	132604813	frameshift variant	-/A	delins			1
rs748536322	RAD50	5	132608690	frameshift variant	A/-;AA	delins			1
rs587781327	RAD50	5	132589653	frameshift variant	CT/-	delins	4.2E-06	7.0E-06	1
rs1060501970	RAD50	5	132579860	splice acceptor variant	A/C	snv			1
rs753950483	RAD50	5	132616035	frameshift variant	T/-	delins			1
rs1060501973	RAD50	5	132604850	stop gained	C/T	snv			1
rs587781930	RAD50	5	132608683	frameshift variant	TCAA/-	delins		1.4E-05	1
rs1554098156	RAD50	5	132587561	splice acceptor variant	G/C	snv			1
rs1554098589	RAD50	5	132594925	frameshift variant	G/-	del			1
rs1060501942	RAD50	5	132609296	frameshift variant	CTTAA/-	delins			1
rs587780155	RAD50	5	132575886	frameshift variant	CAGA/-	delins			1
rs1446519890	RAD50	5	132608730	splice region variant	G/C;T	snv			1
rs1060501936	RAD50	5	132603989	stop gained	C/G;T	snv	4.0E-06		1
rs1554098584	RAD50	5	132594896	frameshift variant	-/A	delins			1
rs786203485	RAD50	5	132579363	stop gained	C/A;T	snv	4.0E-06; 1.2E-05	2.8E-05	1
rs876659158	RAD50	5	132604997	splice donor variant	GTAAG/-	delins			1
rs1554098203	RAD50	5	132588038	frameshift variant	AGAA/-	delins			1
rs1554098484	RAD50	5	132591977	stop gained	G/A	snv			1
rs878854795	RAD50	5	132609387	frameshift variant	-/A	delins			1
rs1554098466	RAD50	5	132591875	splice acceptor variant	A/G	snv			1