DisGeNET - a database of gene-disease associations

List of associated variants

Adenoma, C0001430

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	Num. diseases
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06	490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv		306
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv		213
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06	144
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06	101
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv		63
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05	42
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06	41
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05	38
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins		36
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23	28
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv		25
rs6471	CYP21A2	0.683	0.360	6	32040110	missense variant	G/A;C;T	snv	1.2E-05; 5.3E-03	24
rs121913409	CTNNB1	0.708	0.400	3	41224646	missense variant	C/A;G;T	snv		21
rs17817449	FTO	0.716	0.560	16	53779455	intron variant	T/A;G	snv		21
rs1042821	MSH6	0.732	0.280	2	47783349	missense variant	G/A;C;T	snv	0.18; 8.6E-06	16
rs121913228	CTNNB1	0.742	0.200	3	41224621	missense variant	T/C;G	snv		14
rs459552	APC	0.752	0.320	5	112841059	missense variant	T/A;G	snv	0.79	14
rs770460061	GSTP1	0.742	0.240	11	67585239	missense variant	T/C;G	snv	4.0E-06; 1.2E-05	14
rs1060503115	PMS2	0.763	0.400	7	5978664	missense variant	T/A;G	snv		13
rs121912532	STON1-GTF2A1L ; LHCGR ; GTF2A1L	0.776	0.280	2	48688065	missense variant	C/A;G;T	snv	1.2E-05	12
rs1799732	DRD2 ; LOC105369501	0.790	0.160	11	113475529	intron variant	-/G	delins		11