DisGeNET - a database of gene-disease associations

List of associated variants

Refractory cancer, C0677936

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs1057519783	ALK	0.851	0.080	2	29220747	missense variant	C/T	snv			10
rs748843032	MTTP	0.807	0.160	4	99594840	missense variant	T/C	snv	4.0E-06		8
rs1057519825	BTK	0.882	0.120	X	101356176	missense variant	C/G	snv			7
rs1057519826	BTK	0.882	0.120	X	101356177	missense variant	A/T	snv			7