DisGeNET - a database of gene-disease associations

List of associated variants

Recurrent pancreatitis, C4551632

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
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
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
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
rs387906698	PRSS1	0.827	0.040	7	142751919	missense variant	C/A;T	snv	4.0E-06; 7.2E-05		8
rs113993960	CFTR ; CFTR-AS1	0.827	0.160	7	117559591	inframe deletion	CTT/-	delins		8.0E-03	6
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
rs587777636	GPIHBP1	0.882	0.080	8	143213935	missense variant	G/A;C	snv	6.5E-06		4
rs118204082	LPL	0.851	0.120	8	19955863	missense variant	C/G;T	snv	1.5E-04		4
rs761886494	LPL	0.925	0.040	8	19955870	missense variant	G/A	snv	1.2E-05	2.1E-05	3