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	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1247689593	RAD50	1.000	0.200	5	132588728	stop gained	C/G;T	snv	4.0E-06	7.0E-06	2
rs121912628	RAD50	1.000	0.200	5	132618182	stop gained	C/G;T	snv	1.6E-05	2.8E-05	2
rs149201802	RAD50	1.000	0.200	5	132594950	stop gained	C/G;T	snv	8.0E-05; 5.6E-05		2
rs772468452	RAD50	1.000	0.200	5	132595719	stop gained	C/T	snv	8.0E-06	2.1E-05	2
rs587782090	RAD50	1.000	0.200	5	132587942	stop gained	G/T	snv			2
rs397507177	RAD50			5	132608717	stop gained	C/T	snv	1.4E-05	7.0E-06	1
rs1060501933	TH2LCRR ; RAD50			5	132642195	stop gained	C/A	snv	4.0E-06		1
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
rs1060501973	RAD50			5	132604850	stop gained	C/T	snv			1
rs1060501936	RAD50			5	132603989	stop gained	C/G;T	snv	4.0E-06		1
rs786203485	RAD50			5	132579363	stop gained	C/A;T	snv	4.0E-06; 1.2E-05	2.8E-05	1
rs1554098484	RAD50			5	132591977	stop gained	G/A	snv			1
rs1554098262	RAD50			5	132588848	stop gained	G/T	snv			1
rs749466673	RAD50			5	132595041	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		1
rs587780147	RAD50			5	132589676	stop gained	GATAAGA/-;GATAAGAGATAAGA	delins			1
rs104895046	RAD50			5	132588749	stop gained	C/T	snv	4.0E-06		1
rs1561661777	RAD50 ; TH2LCRR			5	132642203	stop gained	-/GTAACTTCCAGCT	delins			1
rs1561647410	RAD50			5	132609171	stop gained	G/T	snv			1
rs876659132	RAD50			5	132589751	stop gained	G/T	snv			1
rs587781904	RAD50			5	132595033	stop gained	C/A	snv	2.0E-05	1.4E-05	1
rs1561647533	RAD50			5	132609316	stop gained	C/T	snv			1
rs587780150	RAD50			5	132589778	stop gained	C/T	snv			1
rs368980595	RAD50			5	132618134	stop gained	C/A;T	snv	2.0E-05		1
rs745797941	TH2LCRR ; RAD50			5	132637179	stop gained	C/T	snv	8.0E-06	1.4E-05	1