DisGeNET - a database of gene-disease associations

List of associated variants

Metastatic malignant neoplasm to brain, C0220650

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
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
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
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
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs2241880	SCARNA5 ; ATG16L1	0.627	0.600	2	233274722	missense variant	A/G	snv	0.45	0.44	37
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs1271572	ESR2	0.708	0.400	14	64295199	intron variant	A/C;T	snv			16
rs2494732	AKT1	0.763	0.240	14	104772855	intron variant	T/C	snv	0.50	0.47	11
rs2699887	PIK3CA ; LOC101928739	0.763	0.280	3	179148620	intron variant	C/T	snv		0.18	11
rs4803455	TGFB1	0.752	0.280	19	41345604	intron variant	C/A	snv		0.51	11
rs3809865	THCAT158 ; ITGB3	0.790	0.240	17	47311220	3 prime UTR variant	T/A;G	snv			11
rs763538721	HIF1A-AS3 ; HIF1A	0.807	0.160	14	61740897	missense variant	T/A	snv	4.0E-06		8
rs751688663	ATG7	0.807	0.280	3	11340656	missense variant	G/A	snv	4.0E-06		7
rs763375936	ATG3	0.827	0.160	3	112532749	missense variant	C/T	snv	8.3E-06	7.0E-06	5
rs772776695	ATG3	0.827	0.160	3	112548576	missense variant	T/A	snv	4.0E-06		5
rs10036653	ATG10	0.851	0.160	5	81970563	upstream gene variant	A/T	snv		0.17	4
rs3160	BRICD5 ; MLST8	0.925	0.160	16	2209190	3 prime UTR variant	T/C	snv		0.36	3
rs121913418	EGFR	0.882	0.160	7	55174818	missense variant	G/A;T	snv			3
rs4760259	GLI1	0.925	0.160	12	57467043	intron variant	T/A;C	snv			2
rs760112920	KIT	0.925	0.120	4	54731930	missense variant	G/T	snv	4.0E-06	3.5E-05	2
rs26865	MLST8	0.925	0.160	16	2203772	upstream gene variant	A/G	snv		0.41	2