DisGeNET - a database of gene-disease associations

List of associated variants

Choroid Plexus Papilloma, C0205770

Source: ALL

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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
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			18
rs1131691003	TP53	0.752	0.360	17	7676381	splice donor variant	C/A;G	snv			12
rs1131691042	TP53	0.752	0.360	17	7675052	splice donor variant	C/T	snv			12
rs314276	LIN28B	0.807	0.280	6	104960124	intron variant	A/C	snv		0.65	10
rs221634	LIN28B	0.851	0.080	6	105080213	3 prime UTR variant	T/A	snv		0.52	4
rs773378963	TAC3	0.925	0.080	12	57013599	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		2
rs863223301	TP53	0.925	0.080	17	7675130	frameshift variant	-/CCATGGC	delins			2
rs201617046	ESR1	1.000	0.080	6	151808345	missense variant	G/A	snv	3.3E-04	1.4E-04	1
rs192636495	KISS1	1.000	0.080	1	204190573	missense variant	G/T	snv	4.0E-03	1.5E-03	1
rs201073751	KISS1	1.000	0.080	1	204190633	missense variant	G/A;C;T	snv	5.8E-05; 1.4E-03; 4.2E-05		1
rs587777843	KISS1	1.000	0.080	1	204190681	missense variant	G/A	snv	2.0E-05	7.0E-05	1
rs350132	KISS1R	1.000	0.080	19	920642	missense variant	T/A;C	snv	0.78		1
rs118000887	LIN28B	1.000	0.080	6	105078626	missense variant	A/G	snv	3.5E-03	3.8E-03	1