DisGeNET - a database of gene-disease associations

List of associated variants

Carcinogenesis, C0596263

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75	246
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06	223
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50	214
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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04	187
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06	144
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32	134
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv		121
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06	115
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06	101
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06	100
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06	96
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90	83
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05	78
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv		73
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv		73
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv		72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv		72
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42	72
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05	57