DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of pancreas, C0346647

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
rs2470353	XPC ; LOC107986063	0.925	0.120	3	14148768	intron variant	G/A;C;T	snv	0.41; 1.5E-04		2
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs3731114	XPC	0.925	0.120	3	14165122	intron variant	C/G	snv		1.8E-02	2
rs3729587	XPC	0.925	0.120	3	14167125	intron variant	G/C	snv	0.31	0.34	2
rs2607775	XPC ; LSM3	0.807	0.160	3	14178595	5 prime UTR variant	C/G	snv	0.42	0.43	8
rs3731055	XPC ; LSM3	0.925	0.120	3	14178939	intron variant	C/T	snv		1.9E-02	2
rs1223231582	PRSS1	0.677	0.280	7	142750639	missense variant	A/G	snv		7.0E-06	24
rs199769221	PRSS1	0.790	0.280	7	142751920	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06		8
rs111033565	PRSS1	0.742	0.120	7	142751938	missense variant	G/A	snv	1.2E-05		11
rs267606982	PRSS1	0.742	0.120	7	142751938	missense variant	GC/AT	mnv			11
rs111966833	SPINK1	0.776	0.320	5	147828053	missense variant	G/A;C	snv	4.5E-03		8
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs34852782	PRKAG2	0.925	0.120	7	151869086	intron variant	-/A;AG	ins			2
rs1194611372	S100A11	0.763	0.320	1	152032679	missense variant	A/C	snv			9
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs6464375	DPP6	0.925	0.120	7	153928758	intron variant	C/T	snv		6.7E-02	2
rs1037189404	MUC1	0.776	0.280	1	155187519	missense variant	C/T	snv			8
rs766333007	MUC1	0.776	0.280	1	155192274	missense variant	C/T	snv		7.0E-06	8
rs4269383	LOC105378072 ; LOC101928923	0.882	0.120	6	155876368	intergenic variant	A/G	snv		0.37	3
rs78303930	NES	0.925	0.120	1	156670593	missense variant	C/A;G	snv	4.0E-06; 2.4E-03		4
rs779731636	SOD2	0.925	0.120	6	159685026	missense variant	C/A	snv	8.6E-06		2
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs2457571	SLC22A3	0.925	0.120	6	160413796	intron variant	T/C	snv		0.62	2
rs1370041903	PRKN	0.925	0.120	6	161350185	stop gained	G/A	snv			3