DisGeNET - a database of gene-disease associations

List of associated variants

Tumor Initiation, C0598935

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
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs121912678	ACVR1	0.851	0.080	2	157774114	missense variant	C/G;T	snv			8
rs200298588	PDLIM5	1.000	0.040	4	94575722	missense variant	G/A	snv			2
rs367627018	NOS2			17	27787792	missense variant	G/C	snv	2.8E-05	2.1E-05	1