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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs11556218	IL16	0.653	0.600	15	81305928	missense variant	T/G	snv	9.6E-02	0.12	27
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
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
rs752362727	TMEM67	0.716	0.480	8	93786255	missense variant	C/T	snv	2.0E-05		22
rs698	ADH1C ; ADH1B	0.724	0.240	4	99339632	missense variant	T/A;C	snv	0.35		20
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
rs118204057	LPL	0.732	0.400	8	19954222	missense variant	G/A;C	snv	1.9E-04		16
rs1801726	CASR	0.732	0.280	3	122284985	missense variant	G/C	snv	0.95	0.92	13
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
rs1800076	CFTR	0.763	0.200	7	117509093	missense variant	G/A;T	snv	1.5E-02; 8.0E-06		10
rs777418530	CRISPLD2	0.763	0.120	16	84845883	missense variant	A/G	snv	4.0E-06	7.0E-06	10
rs756322971	CASR	0.763	0.240	3	122284955	missense variant	C/A;G	snv			9
rs104894365	KRAS	0.827	0.320	12	25245345	missense variant	C/T	snv			9
rs10273639	PRSS1	0.776	0.280	7	142749077	upstream gene variant	T/A;C	snv			9