DisGeNET - a database of gene-disease associations

Source: CLINVAR

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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
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs1043679457	ERCC8	0.752	0.400	5	60927745	intron variant	C/A;G;T	snv			33
rs753317536	EVC	0.790	0.160	4	5719239	intron variant	G/A;C	snv	8.0E-06; 4.0E-06		12
rs281865192	CEP290	0.742	0.280	12	88101183	intron variant	T/C	snv		2.8E-04	11
rs34690599	HBB	0.763	0.080	11	5225832	intron variant	G/C	snv		2.8E-05	10
rs201892814	CAPN3	1.000	0.040	15	42403721	intron variant	C/G	snv	3.1E-03; 2.4E-05	3.1E-03	8
rs1800728	ABCA4	0.807	0.080	1	94011395	intron variant	A/G	snv	2.3E-04	3.0E-04	8
rs1567558314	MYH3	0.807	0.080	17	10643215	intron variant	CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/-	delins			7
rs386834236	GAA	0.882	0.120	17	80104542	intron variant	T/G	snv	3.4E-03	3.8E-03	6
rs80358079	BRCA1	0.827	0.200	17	43057147	intron variant	C/T	snv			6
rs747900252	COL6A2	0.925	0.160	21	46125776	intron variant	G/A	snv	1.1E-04	7.7E-05	6
rs878853220	LMNA	0.827	0.200	1	156130818	intron variant	T/G	snv			6
rs376892534	DYNC2H1	0.925	0.120	11	103184880	intron variant	G/A	snv	8.1E-06		6
rs546802775	GNPTAB	0.851	0.240	12	101765329	intron variant	TTT/-;TT;TTTT	delins	5.1E-06		5
rs786200928	USH2A	0.827	0.200	1	215891198	intron variant	T/C	snv		4.2E-05	5
rs1135402758	NUP214	1.000		9	131199023	intron variant	T/-	delins			5
rs1554754182	FKTN	0.827	0.200	9	105606576	intron variant	G/T	snv			5
rs34451549	HBB	0.851	0.080	11	5225923	intron variant	G/A	snv		4.9E-05	4
rs80358061	BRCA1	0.882	0.200	17	43104967	intron variant	A/C	snv	1.2E-05	7.0E-06	4
rs397516083	MYBPC3	0.851	0.080	11	47346379	intron variant	C/T	snv		2.1E-05	4
rs80358243	MLC1	0.925	0.200	22	50083183	intron variant	A/G;T	snv	8.0E-06		4
rs75039782	CFTR	0.851	0.160	7	117639961	intron variant	C/G;T	snv			4
rs397508266	CFTR	0.851	0.160	7	117589467	intron variant	A/G	snv		2.8E-05	4
rs765696008	MIR6886 ; LDLR	0.925	0.080	19	11113268	intron variant	G/A;C	snv	2.8E-05; 4.0E-06		4
rs80358163	BRCA1	0.882	0.200	17	43104968	intron variant	T/C	snv			4