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
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913527	KRAS	0.807	0.320	12	25225628	missense variant	C/A;G;T	snv			9
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs1223231582	PRSS1	0.677	0.280	7	142750639	missense variant	A/G	snv		7.0E-06	24
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs1235228469	PIK3CB	0.925	0.120	3	138684714	missense variant	C/A	snv	8.0E-06		2
rs12362504	SBF2 ; LOC101928008	0.925	0.120	11	9907995	intron variant	T/C	snv		0.37	2
rs12413624		0.851	0.120	10	118519432	intergenic variant	T/A	snv		0.34	5
rs12456874	LDLRAD4	0.925	0.120	18	13366863	intron variant	A/G	snv		0.20	2
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs1276300653	CAMK1 ; OGG1	0.925	0.120	3	9757072	missense variant	T/C	snv		7.0E-06	2
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs12939944	MAP2K4	0.925	0.120	17	12056502	intron variant	C/T	snv		0.45	2
rs12947788	TP53	0.776	0.280	17	7674109	intron variant	G/A	snv		0.10	8
rs1318	LOC101928045 ; PITPNC1	0.925	0.120	17	67695266	3 prime UTR variant	A/G	snv		0.30	2
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1322648460	LOC100507144 ; CD44	0.776	0.320	11	35139332	frameshift variant	G/-	delins			9
rs13303010	KLHL17 ; NOC2L	0.925	0.120	1	959193	intron variant	G/A	snv	0.82	0.69	2
rs1336539869	CDK4	0.925	0.120	12	57751681	missense variant	C/G	snv			2
rs1339638227	CDKN2A	0.925	0.120	9	21971119	missense variant	T/C	snv	4.3E-06		2
rs1370041903	PRKN	0.925	0.120	6	161350185	stop gained	G/A	snv			3
rs138147246	OGG1	0.925	0.120	3	9756551	synonymous variant	A/G	snv	8.0E-06	1.4E-05	2