DisGeNET - a database of gene-disease associations

Source: ALL

Results per page

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
rs730881360	ATM	11	108227629	missense variant	G/A;C	snv			1
rs1553622530	BARD1	2	214781220	stop gained	C/T	snv			1
rs1131692162	BRCA1	17	43099781	stop gained	C/A	snv			1
rs1555582520	BRCA1	17	43076486	splice donor variant	A/G	snv			1
rs397508979	BRCA1	17	43092974	frameshift variant	-/GAAAAGTGAA	ins			1
rs55680408	BRCA1	17	43095875	missense variant	T/A;C	snv	3.6E-05	2.8E-05	1
rs886037788	BRCA1	17	43091461	frameshift variant	-/TCAA	ins			1
rs886037789	BRCA1	17	43071159	frameshift variant	T/-	del			1
rs1555280073	BRCA2	13	32316454	start lost	TAAAAATGCCTATTGG/-	delins			1
rs1555284442	BRCA2	13	32340234	frameshift variant	G/-	del			1
rs398122710	BRCA2	13	32371100	missense variant	G/A	snv			1
rs587782137	BRCA2	13	32316471	missense variant	G/A;C	snv	2.4E-05		1
rs886037797	BRCA2	13	32332667	frameshift variant	AACTAACC/-	delins			1
rs1555114766	C11orf65 ; ATM	11	108317486	stop gained	G/A	snv			1
rs555016384	CCR6	6	167136139	missense variant	G/A	snv	4.0E-06	7.0E-06	1
rs1555913881	CHEK2	22	28695841	frameshift variant	T/-	del			1
rs1215280530	CTCF	16	67616822	missense variant	A/G	snv			1
rs201498575	EGFR	7	55165359	missense variant	G/A	snv	4.0E-06		1
rs1389945622	EPM2AIP1 ; MLH1	3	36993560	missense variant	G/A;C	snv			1
rs1131692241	ERBB2	17	39723966	inframe deletion	TGAGGGAAAACACAT/-	delins			1
rs1057519714	ESR1	6	152094402	missense variant	T/C	snv			1
rs1057519716	ESR1	6	152098782	missense variant	C/A	snv			1
rs1057519717	ESR1	6	152098785	missense variant	T/G	snv			1
rs1057519727	HERC2	15	28260829	missense variant	A/G	snv			1
rs1555444543	HERC2	15	28260816	inframe deletion	GTCCAGTCCTGGCAA/-	del			1