DisGeNET - a database of gene-disease associations

List of associated variants

Undifferentiated carcinoma, C0205698

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
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
rs1057519736	IDH2	0.752	0.160	15	90088605	missense variant	C/G	snv			13
rs1057519943	POLE	0.790	0.160	12	132676598	missense variant	G/C;T	snv			10
rs1310728559	SMARCAL1	0.925	0.320	2	216478249	missense variant	T/C	snv	4.0E-06		2