DisGeNET - a database of gene-disease associations

List of associated variants

Acute recurrent pancreatitis, C0267937

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
rs886037774	LPL	0.882	0.120	8	19955993	missense variant	T/C	snv			7
rs886037775	LPL	0.882	0.120	8	19960948	missense variant	A/T	snv			7
rs111033567	PRSS1	0.882	0.040	7	142750582	missense variant	A/G	snv			3
rs1800080	CFTR	0.925	0.120	7	117534330	missense variant	A/G	snv			2
rs376907511	PRSS1	1.000	0.040	7	142752517	missense variant	A/G	snv	6.4E-05		1