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	AF GENOME	Num. diseases
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		16
rs80356898	BRCA1	0.752	0.200	17	43093844	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		11
rs80357382	BRCA1	0.763	0.240	17	43106457	missense variant	T/C	snv	4.0E-06		11
rs62625307	BRCA1	0.827	0.200	17	43091933	stop gained	G/A	snv	4.0E-06		8
rs80356962	BRCA1	0.807	0.200	17	43047666	stop gained	C/G;T	snv	4.0E-06	7.0E-06	8
rs80356978	BRCA1	0.827	0.200	17	43092809	stop gained	C/A;T	snv			7
rs80357123	BRCA1	0.827	0.200	17	43057078	stop gained	G/A;C;T	snv	1.2E-05		7
rs80358044	BRCA1	0.827	0.200	17	43074330	splice donor variant	C/A;G;T	snv			7
rs80357914	BRCA1 ; NBR2	0.827	0.200	17	43124028	frameshift variant	CT/-;CTCT	delins			7
rs41293455	BRCA1	0.827	0.200	17	43082434	stop gained	G/A;C	snv	2.4E-05; 3.2E-05		6
rs80356885	BRCA1	0.827	0.200	17	43074482	stop gained	C/T	snv			6
rs80357440	BRCA1	0.827	0.200	17	43091638	stop gained	G/A;C;T	snv	4.0E-06		6
rs80357446	BRCA1	0.827	0.200	17	43115729	missense variant	C/A;T	snv			6
rs80358079	BRCA1	0.827	0.200	17	43057147	intron variant	C/T	snv			6
rs80358189	BRCA1	0.827	0.200	17	43074522	splice acceptor variant	C/A;G;T	snv	1.2E-05		6
rs886040898	BRCA1	0.827	0.200	17	43115743	stop gained	A/C;T	snv			6
rs80357475	BRCA1 ; NBR2	0.827	0.200	17	43124094	start lost	C/A;G;T	snv			6
rs273899698	BRCA1	0.851	0.080	17	43092434	stop gained	C/A;T	snv			5
rs80356880	BRCA1	0.851	0.080	17	43115750	missense variant	G/C;T	snv			5
rs80357350	BRCA1	0.827	0.200	17	43104928	stop gained	G/A;C	snv			5
rs80357202	BRCA1	0.851	0.080	17	43091477	stop gained	C/A;G;T	snv	2.4E-05		4
rs879255498	BRCA1	0.851	0.080	17	43094606	stop gained	T/A;C	snv			4