DisGeNET - a database of gene-disease associations

List of associated variants

Pancreatitis, Chronic, C0149521

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs1223231582	PRSS1	0.677	0.280	7	142750639	missense variant	A/G	snv		7.0E-06	24
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		18
rs213950	CFTR-AS1 ; CFTR	0.716	0.320	7	117559479	missense variant	G/A	snv	0.47	0.57	16
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs111033565	PRSS1	0.742	0.120	7	142751938	missense variant	G/A	snv	1.2E-05		11
rs111033566	PRSS1	0.742	0.280	7	142750600	missense variant	A/C;T	snv			11
rs267606982	PRSS1	0.742	0.120	7	142751938	missense variant	GC/AT	mnv			11
rs777418530	CRISPLD2	0.763	0.120	16	84845883	missense variant	A/G	snv	4.0E-06	7.0E-06	10
rs10273639	PRSS1	0.776	0.280	7	142749077	upstream gene variant	T/A;C	snv			9
rs199769221	PRSS1	0.790	0.280	7	142751920	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06		8
rs387906698	PRSS1	0.827	0.040	7	142751919	missense variant	C/A;T	snv	4.0E-06; 7.2E-05		8
rs61734659	PRSS2	0.790	0.160	7	142774035	missense variant	G/A	snv		1.4E-02	8
rs748405415	PRSS2	0.790	0.160	7	142773993	stop gained	G/A;T	snv			8
rs111966833	SPINK1	0.776	0.320	5	147828053	missense variant	G/A;C	snv	4.5E-03		8
rs371282890	LPL	0.827	0.120	8	19955900	missense variant	C/G	snv	1.1E-04	6.3E-05	6