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
rs10273639	PRSS1	0.776	0.280	7	142749077	upstream gene variant	T/A;C	snv			9
rs1052571	CASP9	0.882	0.080	1	15524118	missense variant	G/A	snv	0.50	0.59	4
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
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs1132312	CASP9	1.000	0.040	1	15518120	missense variant	A/C;G;T	snv	0.53		1
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21
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
rs139635080	UBE2R2-AS1 ; PRSS3	1.000	0.040	9	33798602	missense variant	G/A	snv			1
rs142907823	TNFRSF1B	1.000	0.040	1	12188800	missense variant	C/T	snv	4.0E-06		1
rs1451659304	LMF1	1.000	0.040	16	868990	missense variant	A/C	snv			2
rs145657341	LPL	0.925	0.120	8	19951811	missense variant	G/A	snv	1.7E-04	7.0E-05	3
rs146966861	UBE2R2-AS1 ; PRSS3	1.000	0.040	9	33797993	missense variant	G/A	snv			1
rs1490931437	TP53	0.925	0.120	17	7673260	missense variant	G/A	snv			2
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs1800796	IL6-AS1 ; STEAP1B ; IL6	0.555	0.760	7	22726627	non coding transcript exon variant	G/C	snv		9.9E-02	74
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
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