DisGeNET - a database of gene-disease associations

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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	Num. diseases
rs1554897879	PTEN			10	87931085	stop gained	C/A	snv		1
rs1555114766	C11orf65 ; ATM			11	108317486	stop gained	G/A	snv		1
rs1555280073	BRCA2			13	32316454	start lost	TAAAAATGCCTATTGG/-	delins		1
rs1555284442	BRCA2			13	32340234	frameshift variant	G/-	del		1
rs1555444543	HERC2			15	28260816	inframe deletion	GTCCAGTCCTGGCAA/-	del		1
rs1555458822	PALB2			16	23614062	frameshift variant	T/-	delins		1
rs1555461693	PALB2			16	23635903	stop gained	C/A	snv		1
rs1555526250	TP53			17	7675191	frameshift variant	-/GGTCT	delins		1
rs1555582520	BRCA1			17	43076486	splice donor variant	A/G	snv		1
rs1555913881	CHEK2			22	28695841	frameshift variant	T/-	del		1
rs397508979	BRCA1			17	43092974	frameshift variant	-/GAAAAGTGAA	ins		1
rs398122710	BRCA2			13	32371100	missense variant	G/A	snv		1
rs587782620	TP53			17	7675185	missense variant	C/A;T	snv		1
rs752908306	HERC2			15	28272372	missense variant	G/A;C	snv	8.0E-06	1
rs786202676	CHEK2			22	28696956	missense variant	T/A;G	snv		1
rs886037788	BRCA1			17	43091461	frameshift variant	-/TCAA	ins		1
rs886037789	BRCA1			17	43071159	frameshift variant	T/-	del		1
rs886037797	BRCA2			13	32332667	frameshift variant	AACTAACC/-	delins		1
rs1057519787	ERBB2	1.000	0.040	17	39711952	missense variant	G/A;C	snv		2
rs121913282	PIK3CA	0.882	0.040	3	179221072	missense variant	A/C	snv		1
rs1057519854	FGFR2	0.882	0.080	10	121488063	missense variant	A/T	snv		5
rs1057519901	FGFR2	0.925	0.080	10	121498525	missense variant	T/G	snv		5
rs121913476	FGFR2	0.851	0.080	10	121498520	missense variant	A/C;T	snv		5
rs1057519951	RHOA	0.882	0.080	3	49375472	missense variant	C/G;T	snv		4
rs121913289	PTEN	1.000	0.080	10	87958013	frameshift variant	A/-	delins		4