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	Chr	Position	Consequence	Alleles	Class	Num. diseases
rs1057519699	PIK3CA	3	179218315	missense variant	G/A	snv	2
rs80357243	BRCA1	17	43063885	missense variant	A/C;G	snv	2
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
rs1057519737	MIR4728 ; ERBB2	17	39724750	inframe insertion	-/GCTCCCCAG	delins	1
rs1057519827	ESR1	6	152011697	missense variant	G/C	snv	1
rs1131692162	BRCA1	17	43099781	stop gained	C/A	snv	1
rs1131692241	ERBB2	17	39723966	inframe deletion	TGAGGGAAAACACAT/-	delins	1
rs121913285	PIK3CA	3	179218286	missense variant	C/G	snv	1
rs1553622530	BARD1	2	214781220	stop gained	C/T	snv	1
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