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
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
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs121912665	TP53	1.000	0.120	17	7674965	missense variant	G/A	snv	2.4E-05	7.0E-06	7
rs1057519803	ERBB3	0.925	0.080	12	56088138	missense variant	G/A	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
rs4771249	FLT1			13	28439277	intron variant	G/A;C	snv			2
rs63750206	MLH1	0.807	0.200	3	36996701	missense variant	G/A;C;T	snv			9
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			25
rs4725431	PRKAG2			7	151776093	intron variant	T/C	snv		0.19	2
rs6964824	PRKAG2			7	151654146	intron variant	T/C	snv		0.31	2
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36