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
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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1143684	NQO2	0.882	0.160	6	3010156	missense variant	C/T	snv	0.79	0.84	4
rs1153280	BACH1	1.000	0.120	21	29305751	intron variant	G/A	snv		0.52	2
rs1153287	BACH1	1.000	0.120	21	29313290	intron variant	G/A;T	snv			1
rs1153294	BACH1	1.000	0.120	21	29328775	intron variant	T/C;G	snv			1
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
rs117214	BACH1	1.000	0.120	21	29348513	intron variant	C/T	snv		0.45	1
rs1176026649	CBR4 ; PALLD	0.851	0.120	4	168921582	missense variant	C/T	snv		7.2E-06	4
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
rs1209809979	AKR1A1	0.925	0.120	1	45568989	missense variant	A/G	snv	4.0E-06		3
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06		34