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	Num. diseases
rs886042600	APC	1.000	0.120	5	112838077	frameshift variant	C/-	del		2
rs886039507	APC	1.000	0.120	5	112819349	splice region variant	G/A;C	snv		2
rs879254169	APC	1.000	0.120	5	112767392	splice donor variant	T/C;G	snv		2
rs879254090	APC	0.925	0.120	5	112827247	missense variant	G/A;C	snv		3
rs878853438	APC	1.000	0.120	5	112838985	stop gained	C/T	snv		2
rs876660816	APC			5	112841872	frameshift variant	C/-	delins		1
rs876660802	APC	1.000	0.120	5	112819266	stop gained	C/G;T	snv		2
rs876660765	APC	0.851	0.120	5	112815594	splice donor variant	G/A	snv		6
rs876660665	APC			5	112841538	stop gained	A/T	snv		1
rs876660496	APC			5	112838472	frameshift variant	CAAAT/-	delins		1
rs876660454	APC			5	112840300	frameshift variant	AT/-	del		1
rs876660439	APC			5	112815535	stop gained	T/A	snv		1
rs876660375	APC			5	112844108	stop gained	C/A;G	snv		1
rs876660265	APC			5	112838678	missense variant	T/A	snv		1
rs876660174	APC			5	112841649	frameshift variant	GTTT/-	delins		1
rs876660130	APC	1.000	0.120	5	112837593	stop gained	C/T	snv		2
rs876659973	APC	1.000	0.120	5	112775738	splice donor variant	G/C	snv		2
rs876659652	APC			5	112840751	frameshift variant	G/-	delins		1
rs876659647	APC	1.000	0.120	5	112839516	frameshift variant	GAAA/-	delins		2
rs876659539	APC			5	112838805	stop gained	C/T	snv		1
rs876659517	APC			5	112835080	stop gained	C/T	snv		1
rs876659460	APC			5	112835109	missense variant	T/G	snv	4.0E-06	1
rs876659452	APC			5	112828880	frameshift variant	TCTTG/-	delins		1
rs876659280	APC	1.000	0.120	5	112843309	stop gained	C/G	snv		2
rs876659022	APC			5	112841938	stop gained	T/G	snv		1