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
rs397507851	BRCA2	0.925	0.120	13	32340761	frameshift variant	AAATGTT/-	delins			3
rs80358451	BRCA2	0.925	0.160	13	32333140	missense variant	T/G	snv	5.6E-05	6.3E-05	2
rs11644043	BRD7	0.925	0.120	16	50327466	intron variant	T/C	snv		0.24	2
rs782128510	C17orf97 ; LOC105371430	0.925	0.120	17	410373	missense variant	C/A;G	snv	7.6E-05; 8.4E-06		2
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs2255280	C9 ; DAB2	0.925	0.120	5	39394887	intron variant	C/A	snv		0.98	2
rs1276300653	CAMK1 ; OGG1	0.925	0.120	3	9757072	missense variant	T/C	snv		7.0E-06	2
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs1176026649	CBR4 ; PALLD	0.851	0.120	4	168921582	missense variant	C/T	snv		7.2E-06	4
rs1800843	CCKBR	0.925	0.120	11	6270835	synonymous variant	C/A;G	snv	0.16; 4.0E-06	0.19	2
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs1129055	CD86	0.724	0.400	3	122119472	missense variant	G/A	snv	0.30	0.25	15
rs17281995	CD86	0.763	0.360	3	122120794	3 prime UTR variant	G/A;C	snv			11
rs1336539869	CDK4	0.925	0.120	12	57751681	missense variant	C/G	snv			2
rs2206734	CDKAL1	0.882	0.160	6	20694653	intron variant	C/T	snv		0.20	6
rs1801270	CDKN1A	0.689	0.400	6	36684194	missense variant	C/A;T	snv	0.15; 4.4E-05		22
rs104894094	CDKN2A	0.763	0.200	9	21971058	missense variant	C/A;G;T	snv	8.5E-06; 4.3E-06		12
rs786204195	CDKN2A	0.851	0.200	9	21974686	missense variant	G/A;T	snv			4
rs1339638227	CDKN2A	0.925	0.120	9	21971119	missense variant	T/C	snv	4.3E-06		2
rs1537373	CDKN2B-AS1	0.925	0.120	9	22103342	intron variant	T/G	snv		0.63	3
rs6475609	CDKN2B-AS1	0.925	0.120	9	22106272	intron variant	A/C;G;T	snv			2
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv		0.32	22
rs488087	CEL	0.925	0.120	9	133071212	synonymous variant	C/A;T	snv	0.11	0.26	2
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43