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
rs10273639	PRSS1	0.776	0.280	7	142749077	upstream gene variant	T/A;C	snv			9
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
rs104894365	KRAS	0.827	0.320	12	25245345	missense variant	C/T	snv			9
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs111033564	PRSS1	0.925	0.040	7	142751808	splice donor variant	G/A	snv	3.6E-05	9.8E-05	2
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
rs111033567	PRSS1	0.882	0.040	7	142750582	missense variant	A/G	snv			3
rs111033568	PRSS1	0.882	0.040	7	142751937	missense variant	C/G;T	snv	2.0E-05		3
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
rs11556218	IL16	0.653	0.600	15	81305928	missense variant	T/G	snv	9.6E-02	0.12	27
rs118204057	LPL	0.732	0.400	8	19954222	missense variant	G/A;C	snv	1.9E-04		16
rs118204082	LPL	0.851	0.120	8	19955863	missense variant	C/G;T	snv	1.5E-04		4
rs11971167	CFTR	0.882	0.160	7	117642528	missense variant	G/A;T	snv	1.3E-03		3
rs12008279	MORC4 ; CLDN2	0.882	0.080	X	106917472	intron variant	A/G;T	snv			3
rs12014762	MORC4	0.882	0.080	X	106940440	intron variant	C/T	snv		0.14	3
rs121909293	CTRC	0.851	0.080	1	15445717	missense variant	C/T	snv	4.4E-03	3.8E-03	5
rs1223231582	PRSS1	0.677	0.280	7	142750639	missense variant	A/G	snv		7.0E-06	24
rs12688220	MORC4	0.827	0.200	X	107001537	upstream gene variant	C/T	snv		0.19	5
rs13228878	PRSS2	1.000	0.040	7	142765617	intron variant	G/A	snv		0.51	1
rs1335550286	APOE	1.000	0.040	19	44909005	missense variant	G/A	snv		7.0E-06	2
rs139232307	PRSS2	1.000	0.040	7	142773300	missense variant	G/A	snv		1.4E-05	1
rs140808909	APOE	0.851	0.120	19	44909080	missense variant	G/A	snv	2.0E-04	5.6E-05	5
rs142560329	CTRC	0.925	0.040	1	15445703	missense variant	C/T	snv	9.9E-05	2.2E-04	2