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
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
rs876660427	APC			5	112838608	missense variant	C/T	snv			4
rs1219568637	EGFR			7	55143404	missense variant	G/A	snv		7.0E-06	2
rs1288422703	APC			5	112767386	missense variant	G/A	snv	4.0E-06		2
rs412396				20	43657322	downstream gene variant	C/G	snv		0.77	2
rs4725431	PRKAG2			7	151776093	intron variant	T/C	snv		0.19	2
rs4771249	FLT1			13	28439277	intron variant	G/A;C	snv			2
rs6964824	PRKAG2			7	151654146	intron variant	T/C	snv		0.31	2
rs772468040	FLT3			13	28057413	missense variant	C/G;T	snv	1.2E-05; 4.0E-06		2
rs1064793236	PMS2			7	5986802	missense variant	C/T	snv		7.0E-06	1
rs17280262				14	96587587	upstream gene variant	C/T	snv		5.1E-02	1
rs1961177	CYP19A1			15	51332881	intron variant	C/T	snv		0.21	1
rs4812219				20	60847915	intergenic variant	C/T	snv		0.13	1
rs587780053	PMS2			7	5977698	missense variant	C/T	snv	8.0E-06	1.4E-05	1
rs730881913	PMS2			7	6004023	missense variant	C/T	snv	4.0E-06		1
rs779512948	PMS2			7	5989800	missense variant	C/G;T	snv	4.0E-06		1
rs864622553	PMS2			7	5987540	missense variant	C/G	snv	1.2E-05	1.4E-05	1
rs56848936	SYMPK	0.776	0.080	19	45818249	intron variant	A/G	snv		1.9E-02	11
rs1057519803	ERBB3	0.925	0.080	12	56088138	missense variant	G/A	snv			4
rs7987649	FLT1	0.925	0.080	13	28320278	intron variant	A/G	snv		0.35	4
rs121913331	APC	0.851	0.120	5	112838934	stop gained	C/A;T	snv	8.0E-06		11
rs121912665	TP53	1.000	0.120	17	7674965	missense variant	G/A	snv	2.4E-05	7.0E-06	7
rs768824654	MSH2	1.000	0.120	2	47403390	start lost	A/G	snv		7.0E-06	6