DisGeNET - a database of gene-disease associations

List of associated variants

Pancreatic carcinoma, C0235974

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
rs111033565	PRSS1	0.742	0.120	7	142751938	missense variant	G/A	snv	1.2E-05		11
rs11141915	DAPK1	0.882	0.160	9	87620879	intron variant	A/C	snv		0.25	3
rs111966833	SPINK1	0.776	0.320	5	147828053	missense variant	G/A;C	snv	4.5E-03		8
rs1129055	CD86	0.724	0.400	3	122119472	missense variant	G/A	snv	0.30	0.25	15
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1131691003	TP53	0.752	0.360	17	7676381	splice donor variant	C/A;G	snv			12
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
rs1131691042	TP53	0.752	0.360	17	7675052	splice donor variant	C/T	snv			12
rs1143684	NQO2	0.882	0.160	6	3010156	missense variant	C/T	snv	0.79	0.84	4
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
rs11571836	BRCA2	0.827	0.200	13	32399302	3 prime UTR variant	A/G;T	snv			6
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs11644043	BRD7	0.925	0.120	16	50327466	intron variant	T/C	snv		0.24	2
rs11644322	WWOX	0.925	0.120	16	79005703	intron variant	C/T	snv		0.22	3
rs11655237	LINC00511 ; LINC00673	0.724	0.280	17	72404025	non coding transcript exon variant	C/T	snv		0.16	17
rs1169296	HNF1A	1.000	0.120	12	120990604	intron variant	A/G	snv		0.26	1
rs1176026649	CBR4 ; PALLD	0.851	0.120	4	168921582	missense variant	C/T	snv		7.2E-06	4
rs1182933	C12orf43	1.000	0.120	12	121016819	upstream gene variant	C/T	snv		0.26	3
rs11943456	TMEM165	0.708	0.320	4	55410167	intron variant	T/C	snv		0.42	18
rs1194611372	S100A11	0.763	0.320	1	152032679	missense variant	A/C	snv			9
rs12029406		0.882	0.120	1	199936700	intergenic variant	C/T	snv		0.36	3