DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Pleomorphic Xanthoastrocytoma, C3899645

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
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs150484080	ATRX	0.925	0.040	X	77684088	missense variant	G/A	snv	7.2E-05	6.6E-05	2