DisGeNET - a database of gene-disease associations

List of associated variants

Multiple fibrofolliculomas, C0346010

Source: ALL

Results per page

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
rs758175953	FLCN	0.827	0.240	17	17222500	splice donor variant	C/A;G	snv	1.6E-05		6
rs199643834	FLCN ; MPRIP	0.827	0.200	17	17215000	missense variant	T/C	snv	1.9E-04	1.7E-04	6
rs879255678	FLCN ; MPRIP	0.827	0.240	17	17215188	stop gained	G/A	snv		7.0E-06	6
rs879255664	FLCN	0.882	0.200	17	17222517	missense variant	G/A	snv			4
rs368778627	FLCN	0.882	0.120	17	17222501	stop gained	C/T	snv	4.0E-06		3
rs398124542	FLCN	0.925	0.080	17	17219126	frameshift variant	-/GTACTCTCTGGCAACACAGGGGCTTTCT	delins	4.0E-05		3
rs587782069	FLCN	0.925	0.120	17	17224041	stop gained	G/A	snv			3
rs750146811	FLCN	0.925	0.080	17	17227900	frameshift variant	CGAC/-	delins	1.2E-05		3
rs786203218	FLCN	0.925	0.080	17	17224069	inframe deletion	AAG/-	delins	4.0E-06	7.0E-06	3
rs879255658	FLCN	0.882	0.160	17	17228135	start lost	C/G	snv			3
rs137852929	FLCN ; MPRIP	0.925	0.080	17	17215228	stop gained	G/A;C;T	snv	6.0E-05		3
rs80338682	MPRIP ; FLCN	0.925	0.080	17	17216395	frameshift variant	G/-;GG	delins			3
rs758586312	SMAD3	0.925	0.120	15	67184823	missense variant	G/A	snv	1.6E-05	2.1E-05	3
rs747370442	THBS1	0.925	0.120	15	39584048	missense variant	G/A	snv	8.0E-06	7.0E-06	3
rs1060502368	FLCN	1.000	0.080	17	17219060	frameshift variant	G/-	delins		7.0E-06	2
rs1064792959	FLCN	1.000	0.080	17	17224022	frameshift variant	ATGATGCTGTACCAGC/CTGAT	delins			2
rs1131690840	FLCN	1.000	0.080	17	17222662	splice acceptor variant	C/T	snv			2
rs398124533	FLCN	1.000	0.080	17	17226324	splice acceptor variant	T/C	snv	4.0E-06		2
rs398124534	FLCN	1.000	0.080	17	17226276	frameshift variant	T/-	del			2
rs398124535	FLCN	1.000	0.080	17	17226252	frameshift variant	AC/GTG	delins			2
rs398124536	FLCN	1.000	0.080	17	17226226	stop gained	G/A;T	snv	5.6E-05		2
rs398124541	FLCN	1.000	0.080	17	17219188	frameshift variant	TTCT/-	delins	8.0E-06		2
rs754616167	FLCN	1.000	0.080	17	17228105	stop gained	G/A;T	snv	1.2E-05		2
rs776896550	FLCN	1.000	0.080	17	17226224	frameshift variant	-/T	delins	4.0E-06		2
rs786202081	FLCN	1.000	0.080	17	17226323	splice acceptor variant	C/T	snv			2