DisGeNET - a database of gene-disease associations

List of associated variants

CNS metastases, C0686377

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
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
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs1057519729	MAP2K1	0.827	0.080	15	66435113	missense variant	A/C	snv			6
rs706716	PIK3R1	0.882	0.080	5	68252614	intron variant	C/T	snv		0.19	4
rs267598140	DDR2	0.925	0.080	1	162778600	missense variant	T/A;G	snv			3
rs778199483	EGFR-AS1 ; EGFR	1.000	0.080	7	55181313	missense variant	C/G;T	snv	4.8E-05		2
rs3730050	AKT2			19	40265075	intron variant	T/C	snv		0.73	1
rs11686903	PDK1			2	172581558	intron variant	C/T	snv		0.24	1