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
rs867114783	TP53	17	7675109	missense variant	T/C	snv			6
rs140516819	EGFR	7	55172999	missense variant	A/C;G	snv	4.0E-05	2.4E-04	4
rs1441008398	APC	5	112839334	missense variant	C/T	snv	4.0E-06		4
rs35918369	EGFR	7	55205613	missense variant	C/T	snv	3.1E-04	3.3E-04	4
rs750605522	GOT2	16	58722168	missense variant	T/A	snv	4.0E-06	7.0E-06	4
rs767136747	SARDH	9	133717404	missense variant	T/C	snv	4.0E-06		4
rs876660427	APC	5	112838608	missense variant	C/T	snv			4
rs121913381	CDKN2A	9	21971037	missense variant	C/A;T	snv			3
rs151227402	SLC2A9 ; DRD5	4	9783126	missense variant	A/G	snv	8.0E-05	3.1E-04	3
rs16861205	ADIPOQ	3	186843845	intron variant	G/A	snv		0.14	3
rs2071214	BIRC5	17	78223510	missense variant	G/A	snv	0.93	0.96	3
rs371217738	ADRA2B	2	96115056	missense variant	C/A;T	snv	8.1E-06		3
rs375526265	APEX1	14	20457260	missense variant	C/T	snv	1.2E-05	2.8E-05	3
rs4940177	DCC	18	52342374	intron variant	T/C;G	snv			3
rs556324078	EGFR	7	55205514	missense variant	T/C	snv	4.0E-06		3
rs750600586	TP53	17	7675199	missense variant	G/A;T	snv			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
rs878853824	MSH2	2	47412558	stop gained	C/T	snv			3
rs969139366	PDGFRA	4	54277974	missense variant	T/C	snv		3.5E-05	3
rs1057519761	KIT	4	54733175	missense variant	T/G	snv			2
rs1057519827	ESR1	6	152011697	missense variant	G/C	snv			2