DisGeNET - a database of gene-disease associations

List of associated variants

Adenocarcinoma of pancreas, C0281361

Source: CLINVAR ×

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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
rs587782703	SDHB	0.807	0.160	1	17053947	splice donor variant	C/A;T	snv	1.2E-05; 4.1E-06		8
rs1057519919	MYCNOS ; MYCN	0.851	0.160	2	15942195	missense variant	C/T	snv			5
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			28
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		25
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv			22
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			17
rs121913283	PIK3CA	0.724	0.440	3	179234286	missense variant	G/A;T	snv	4.0E-06		14
rs587777790	PIK3CA	0.732	0.280	3	179199690	missense variant	G/A	snv			12
rs1057519886	CTNNB1	0.752	0.240	3	41224609	missense variant	T/A;C;G	snv			11
rs1057519936	PIK3CA	0.776	0.200	3	179234284	missense variant	A/G;T	snv			11
rs1057519937	PIK3CA	0.776	0.200	3	179234285	missense variant	T/C	snv			11
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv			10
rs121913413	CTNNB1	0.763	0.240	3	41224634	missense variant	C/A;T	snv			9
rs587778883	MLH1	0.807	0.200	3	37025648	frameshift variant	A/-	del			1
rs876658923	EPM2AIP1 ; MLH1	1.000	0.120	3	36993593	frameshift variant	TGAACCG/-	delins			1
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	2
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	9
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	8
rs202003805	PRSS1	0.827	0.120	7	142750561	missense variant	C/T	snv	9.0E-05		1
rs1057519883	CDKN2A	0.742	0.280	9	21971120	missense variant	C/G;T	snv			11
rs34968276	CDKN2A	0.776	0.240	9	21971110	stop gained	G/A;C;T	snv			9
rs1057519881	CDKN2A	0.776	0.240	9	21971111	missense variant	T/C	snv			8