DisGeNET - a database of gene-disease associations

List of associated variants

Acute pancreatitis, C0001339

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
rs139635080	UBE2R2-AS1 ; PRSS3	1.000	0.040	9	33798602	missense variant	G/A	snv			1
rs146966861	UBE2R2-AS1 ; PRSS3	1.000	0.040	9	33797993	missense variant	G/A	snv			1
rs5743795	TLR6 ; TLR1	1.000	0.040	4	38830874	intron variant	C/T	snv		0.14	1
rs1805017	PLA2G7	0.851	0.240	6	46716485	missense variant	C/A;T	snv	4.0E-06; 0.31		5
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs778574118	CASP7	1.000	0.040	10	113721138	missense variant	A/G	snv	4.0E-06		1
rs777418530	CRISPLD2	0.763	0.120	16	84845883	missense variant	A/G	snv	4.0E-06	7.0E-06	10
rs142907823	TNFRSF1B	1.000	0.040	1	12188800	missense variant	C/T	snv	4.0E-06		1
rs9904341	BIRC5	0.695	0.280	17	78214286	5 prime UTR variant	G/A;C;T	snv	0.38; 4.8E-06		20
rs111033565	PRSS1	0.742	0.120	7	142751938	missense variant	G/A	snv	1.2E-05		11
rs5707	REN	1.000	0.040	1	204160543	intron variant	A/C;G;T	snv	0.25; 2.0E-05; 1.2E-05		2
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		18
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21
rs371282890	LPL	0.827	0.120	8	19955900	missense variant	C/G	snv	1.1E-04	6.3E-05	6
rs145657341	LPL	0.925	0.120	8	19951811	missense variant	G/A	snv	1.7E-04	7.0E-05	3
rs497078	CTRC	0.925	0.040	1	15440540	synonymous variant	C/A;T	snv	3.7E-03; 9.1E-02		2
rs76863441	PLA2G7	0.672	0.440	6	46709361	missense variant	C/A	snv	4.5E-03	1.3E-03	25
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs213950	CFTR-AS1 ; CFTR	0.716	0.320	7	117559479	missense variant	G/A	snv	0.47	0.57	16
rs1052571	CASP9	0.882	0.080	1	15524118	missense variant	G/A	snv	0.50	0.59	4