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
rs12688220	MORC4	0.827	0.200	X	107001537	upstream gene variant	C/T	snv		0.19	5
rs7057398	MORC4 ; RIPPLY1 ; CLDN2	0.827	0.080	X	106901299	intron variant	T/C	snv		0.41	5
rs2071746	HMOX1	0.708	0.320	22	35380679	intron variant	A/T	snv		0.49	18
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21
rs9904341	BIRC5	0.695	0.280	17	78214286	5 prime UTR variant	G/A;C;T	snv	0.38; 4.8E-06		20
rs1490931437	TP53	0.925	0.120	17	7673260	missense variant	G/A	snv			2
rs777418530	CRISPLD2	0.763	0.120	16	84845883	missense variant	A/G	snv	4.0E-06	7.0E-06	10
rs1451659304	LMF1	1.000	0.040	16	868990	missense variant	A/C	snv			2
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs778574118	CASP7	1.000	0.040	10	113721138	missense variant	A/G	snv	4.0E-06		1
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
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
rs371282890	LPL	0.827	0.120	8	19955900	missense variant	C/G	snv	1.1E-04	6.3E-05	6
rs773891125	LPL	0.827	0.120	8	19955896	frameshift variant	CT/-	delins			6
rs145657341	LPL	0.925	0.120	8	19951811	missense variant	G/A	snv	1.7E-04	7.0E-05	3
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
rs1223231582	PRSS1	0.677	0.280	7	142750639	missense variant	A/G	snv		7.0E-06	24
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		18
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
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