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
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs4251961	IL1RN	0.763	0.200	2	113116890	intron variant	T/C	snv		0.29	10
rs7057398	MORC4 ; RIPPLY1 ; CLDN2	0.827	0.080	X	106901299	intron variant	T/C	snv		0.41	5
rs10273639	PRSS1	0.776	0.280	7	142749077	upstream gene variant	T/A;C	snv			9
rs267606982	PRSS1	0.742	0.120	7	142751938	missense variant	GC/AT	mnv			11
rs756271986	PRSS2	0.925	0.040	7	142773430	missense variant	GC/AT	mnv			2
rs1800796	IL6-AS1 ; STEAP1B ; IL6	0.555	0.760	7	22726627	non coding transcript exon variant	G/C	snv		9.9E-02	74
rs748405415	PRSS2	0.790	0.160	7	142773993	stop gained	G/A;T	snv			8
rs9904341	BIRC5	0.695	0.280	17	78214286	5 prime UTR variant	G/A;C;T	snv	0.38; 4.8E-06		20
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		18
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
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs213950	CFTR-AS1 ; CFTR	0.716	0.320	7	117559479	missense variant	G/A	snv	0.47	0.57	16
rs111033565	PRSS1	0.742	0.120	7	142751938	missense variant	G/A	snv	1.2E-05		11
rs61734659	PRSS2	0.790	0.160	7	142774035	missense variant	G/A	snv		1.4E-02	8
rs1052571	CASP9	0.882	0.080	1	15524118	missense variant	G/A	snv	0.50	0.59	4
rs145657341	LPL	0.925	0.120	8	19951811	missense variant	G/A	snv	1.7E-04	7.0E-05	3
rs1490931437	TP53	0.925	0.120	17	7673260	missense variant	G/A	snv			2
rs752688735	PRSS1	0.925	0.040	7	142752547	missense variant	G/A	snv			2
rs764176833	PRSS2	0.925	0.040	7	142773430	missense variant	G/A	snv			2
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