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
rs762727745	CTSB	1.000	0.040	8	11847803	synonymous variant	G/A	snv	1.7E-05		1
rs773552397	CASR	1.000	0.040	3	122284641	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		1
rs775626498	CRISPLD2	1.000	0.040	16	84850577	missense variant	G/A	snv			1
rs9111	BACH2	1.000	0.040	6	90271934	5 prime UTR variant	C/G;T	snv			1
rs1223231582	PRSS1	0.677	0.280	7	142750639	missense variant	A/G	snv		7.0E-06	24
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs777418530	CRISPLD2	0.763	0.120	16	84845883	missense variant	A/G	snv	4.0E-06	7.0E-06	10
rs980303898	LOC101929532 ; GCG	0.851	0.120	2	162147479	missense variant	T/C	snv	8.0E-06	7.0E-06	4
rs1413293653	CRISPLD2	1.000	0.040	16	84866923	missense variant	A/G	snv	4.0E-06	7.0E-06	1
rs747940576	CTSB	0.882	0.120	8	11853351	missense variant	T/C	snv	4.0E-06	1.4E-05	4
rs761886494	LPL	0.925	0.040	8	19955870	missense variant	G/A	snv	1.2E-05	2.1E-05	3
rs371282890	LPL	0.827	0.120	8	19955900	missense variant	C/G	snv	1.1E-04	6.3E-05	6
rs142022985	PRSS3 ; UBE2R2-AS1	1.000	0.040	9	33798530	missense variant	A/G	snv	1.2E-03	1.5E-03	1
rs121909293	CTRC	0.851	0.080	1	15445717	missense variant	C/T	snv	4.4E-03	3.8E-03	5
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs61734659	PRSS2	0.790	0.160	7	142774035	missense variant	G/A	snv		1.4E-02	8
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs11988997	SAMD12-AS1	1.000	0.040	8	118753955	intron variant	C/T	snv		7.4E-02	1
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs12688220	MORC4	0.827	0.200	X	107001537	upstream gene variant	C/T	snv		0.19	5
rs1303	SERPINA1	0.925	0.040	14	94378506	missense variant	T/G	snv	0.28	0.22	4
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs4409525	MORC4	0.925	0.040	X	106897095	intron variant	G/A	snv		0.28	2