DisGeNET - a database of gene-disease associations

List of associated variants

Acute on chronic pancreatitis, C0262417

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
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
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
rs199769221	PRSS1	0.790	0.280	7	142751920	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06		8
rs76371115	CFTR	0.807	0.160	7	117531041	missense variant	A/C;G;T	snv	8.0E-06		6
rs397508687	CFTR	0.827	0.080	7	117531040	frameshift variant	-/GA	ins	4.0E-06		5