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
rs6622126	MORC4	0.851	0.080	X	106956972	missense variant	G/A	snv	0.58		4
rs980303898	LOC101929532 ; GCG	0.851	0.120	2	162147479	missense variant	T/C	snv	8.0E-06	7.0E-06	4
rs387906698	PRSS1	0.827	0.040	7	142751919	missense variant	C/A;T	snv	4.0E-06; 7.2E-05		8
rs202003805	PRSS1	0.827	0.120	7	142750561	missense variant	C/T	snv	9.0E-05		6
rs371282890	LPL	0.827	0.120	8	19955900	missense variant	C/G	snv	1.1E-04	6.3E-05	6
rs773891125	LPL	0.827	0.120	8	19955896	frameshift variant	CT/-	delins			6
rs12688220	MORC4	0.827	0.200	X	107001537	upstream gene variant	C/T	snv		0.19	5
rs7057398	MORC4 ; RIPPLY1 ; CLDN2	0.827	0.080	X	106901299	intron variant	T/C	snv		0.41	5
rs199769221	PRSS1	0.790	0.280	7	142751920	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06		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
rs10273639	PRSS1	0.776	0.280	7	142749077	upstream gene variant	T/A;C	snv			9
rs111966833	SPINK1	0.776	0.320	5	147828053	missense variant	G/A;C	snv	4.5E-03		8
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs777418530	CRISPLD2	0.763	0.120	16	84845883	missense variant	A/G	snv	4.0E-06	7.0E-06	10
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
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
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
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
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48