DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of pancreas, C0346647

Disease: Malignant tumor of colon

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1131691021	TP53	0.716	0.120	17	7675097	missense variant	A/C;G	snv			21
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs9904341	BIRC5	0.695	0.280	17	78214286	5 prime UTR variant	G/A;C;T	snv	0.38; 4.8E-06		20
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs2585428	CYP24A1	0.763	0.200	20	54170358	intron variant	C/T	snv		0.46	11
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53