DisGeNET - a database of gene-disease associations

List of associated variants

Pancreatitis, C0030305

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
rs1451011538	CRISPLD2	0.925	0.080	16	84838647	missense variant	T/A	snv	4.0E-06		2
rs145844329	GPIHBP1	0.882	0.120	8	143215486	missense variant	G/A;C	snv	2.5E-05; 8.5E-04		3
rs145867820	PRSS1	1.000	0.040	7	142751775	missense variant	C/T	snv			1
rs149089920	LPL	0.925	0.120	8	19962134	missense variant	G/A	snv	6.0E-05	2.1E-04	3
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800076	CFTR	0.763	0.200	7	117509093	missense variant	G/A;T	snv	1.5E-02; 8.0E-06		10
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39
rs1801726	CASR	0.732	0.280	3	122284985	missense variant	G/C	snv	0.95	0.92	13
rs190853081	APOE	0.925	0.080	19	44909083	missense variant	G/A	snv	2.0E-04	5.6E-05	3
rs199422123	PRSS1	0.925	0.040	7	142751934	missense variant	G/A;T	snv	2.0E-05		2
rs199695765	CPA2	0.925	0.160	7	130269008	stop gained	C/T	snv	8.8E-05	1.3E-04	2
rs199769221	PRSS1	0.790	0.280	7	142751920	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06		8
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs202003805	PRSS1	0.827	0.120	7	142750561	missense variant	C/T	snv	9.0E-05		6
rs2647087		1.000	0.040	6	32713272	upstream gene variant	A/C	snv		0.29	2
rs267606982	PRSS1	0.742	0.120	7	142751938	missense variant	GC/AT	mnv			11
rs2995271	LOC101929279	0.925	0.040	10	30230903	regulatory region variant	C/T	snv		0.64	2
rs34708521	SPEF2	1.000	0.040	5	35670201	missense variant	G/A;T	snv	0.10; 4.0E-06		1
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs379742		1.000	0.040	X	106250703	intergenic variant	G/A	snv		0.17	1
rs3809849	MYBBP1A	0.882	0.120	17	4555303	missense variant	G/C;T	snv	0.21; 3.1E-05		3
rs387906698	PRSS1	0.827	0.040	7	142751919	missense variant	C/A;T	snv	4.0E-06; 7.2E-05		8
rs397507442	PRSS1	0.925	0.040	7	142750579	missense variant	A/G	snv			2
rs397508139	CFTR	0.882	0.160	7	117540237	missense variant	T/A;C	snv	4.0E-06; 4.0E-06		3