DisGeNET - a database of gene-disease associations

List of associated variants

Autosomal Dominant Hereditary Pancreatitis, C4080064

Source: ALL

Results per page

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
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
rs111033568	PRSS1	0.882	0.040	7	142751937	missense variant	C/G;T	snv	2.0E-05		3
rs104893939	SPINK1	0.925	0.040	5	147831537	missense variant	A/C;G	snv			2