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
rs3021088	ND2 ; COX1	0.925	0.120	MT	5460	missense variant	G/A	snv			2
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs2073389	SMARCB1	0.925	0.120	22	23791306	intron variant	C/T	snv		0.59	2
rs2074733	SF3A1	0.925	0.120	22	30342598	non coding transcript exon variant	T/C	snv		0.53	2
rs5757573	PDGFB	0.925	0.120	22	39237617	intron variant	C/T	snv		0.57	2
rs5768709	TAFA5	0.925	0.120	22	48533757	intron variant	A/G	snv		0.36	2
rs6001516		0.925	0.120	22	39248198	intron variant	C/T	snv		6.1E-02	2
rs16986825	ZNRF3	1.000	0.120	22	28904318	intron variant	C/T	snv		0.13	1
rs450960	MICAL3	1.000	0.120	22	17833538	intron variant	C/T	snv		0.30	1
rs372883	BACH1	0.827	0.360	21	29345416	3 prime UTR variant	T/C	snv		0.53	5
rs1547374	LOC105372815	0.925	0.120	21	42358786	downstream gene variant	A/G	snv		0.32	2
rs1630747	SLC5A3 ; MRPS6	0.925	0.120	21	34085692	intron variant	C/A	snv		0.69	2
rs2585428	CYP24A1	0.763	0.200	20	54170358	intron variant	C/T	snv		0.46	11
rs2762932	CYP24A1	0.882	0.200	20	54151852	downstream gene variant	T/C	snv		0.17	3
rs757748401	NFATC2	0.925	0.120	20	51542465	missense variant	C/A;T	snv	5.2E-06		3
rs6127119	CYP24A1	0.925	0.120	20	54162543	intron variant	C/T	snv		0.24	2
rs6073450	LINC01620	1.000	0.120	20	44458008	intron variant	G/A	snv		0.43	1
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
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
rs1801272	CYP2A6	0.807	0.240	19	40848628	missense variant	A/T	snv	2.0E-02	1.8E-02	6