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	Chr	Position	Consequence	Alleles	Class	Num. diseases
rs80357243	BRCA1		17	43063885	missense variant	A/C;G	snv	2
rs80358146	BRCA1	1.000	17	43104957	splice acceptor variant	C/A;T	snv	2
rs80359603	BRCA2	1.000	13	32340907	frameshift variant	G/-	delins	2
rs886037784	BRCA1	1.000	17	43099803	frameshift variant	A/-	del	2
rs886037785	BRCA1	1.000	17	43091708	frameshift variant	TACCT/-	delins	2
rs886037786	BRCA1	1.000	17	43094231	frameshift variant	-/G	delins	2
rs886037787	BRCA1	1.000	17	43092961	stop gained	A/T	snv	2
rs886037790	BRCA1	1.000	17	43071202	frameshift variant	A/-	delins	2
rs886037798	BRCA2	1.000	13	32340886	frameshift variant	-/C	delins	2
rs886037799	BRCA2	1.000	13	32338503	frameshift variant	AT/-	del	2
rs886037800	BRCA2	1.000	13	32338395	frameshift variant	TT/-;TTT	delins	2
rs886037803	BRCA2	1.000	13	32338188	frameshift variant	TA/-	delins	2
rs886037804	BRCA2	1.000	13	32379805	frameshift variant	A/-	delins	2
rs886037805	BRCA2	1.000	13	32398266	frameshift variant	G/-	del	2
rs886040109	BRCA1	1.000	17	43092265	frameshift variant	A/-	delins	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