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	AF EXOME	AF GENOME	Num. diseases
rs4940177	DCC	18	52342374	intron variant	T/C;G	snv			3
rs556324078	EGFR	7	55205514	missense variant	T/C	snv	4.0E-06		3
rs557263543	FGFR1	8	38412508	3 prime UTR variant	C/T	snv			3
rs61735836	FTCD-AS1 ; FTCD	21	46152973	missense variant	C/T	snv	5.7E-02	5.6E-02	3
rs6787344		3	186622052	intron variant	G/C	snv		0.19	3
rs74751600	CHEK2	22	28695852	missense variant	T/C	snv			3
rs750600586	TP53	17	7675199	missense variant	G/A;T	snv			3
rs755683317	TPTE	21	10567746	missense variant	G/A;C	snv	2.4E-05		3
rs761546875	MDM2	12	68816914	missense variant	G/C	snv	4.0E-06		3
rs767543501	MUL1	1	20502133	missense variant	C/A;G	snv	4.0E-06; 1.6E-05		3
rs771246666	DRD5 ; SLC2A9	4	9783122	frameshift variant	T/-	delins	4.4E-05		3
rs864622017	E2F1	20	33679830	missense variant	C/T	snv			3
rs868047715	KDR	4	55089696	missense variant	G/A	snv			3
rs961150162	EGFR	7	55198779	missense variant	G/A;C	snv			3
rs1012049	PTPRK	6	128209162	intron variant	G/A	snv		0.44	2
rs1027720509	SHMT1 ; MIR6778	17	18340813	missense variant	C/T	snv			2
rs1047344644	LOC105375545 ; GSTK1	7	143268092	missense variant	C/A;T	snv	8.0E-06; 8.0E-06		2
rs1056628	SLC12A5-AS1 ; MMP9	20	46016407	3 prime UTR variant	A/C	snv			2
rs1060502495	BRCA2	13	32332560	missense variant	A/G	snv			2
rs1064793328	PMS2	7	5973425	missense variant	T/C	snv			2
rs1088625	SNAP91	6	83646407	intron variant	A/G	snv			2
rs11060845	PIWIL1	12	130367629	intron variant	G/T	snv		4.8E-02	2
rs11089328	DGCR8	22	20092080	intron variant	A/G	snv		0.40	2
rs11160608	MEG3	14	100846756	non coding transcript exon variant	A/C;T	snv			2
rs111853599	CENPE	4	103196214	missense variant	A/G	snv	4.0E-06		2