DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary pancreatitis, C0238339

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs486907	RNASEL	0.667	0.360	1	182585422	missense variant	C/T	snv	0.31	0.28	32
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23		28
rs113993959	CFTR	0.677	0.280	7	117587778	stop gained	G/A;T	snv	8.0E-06; 3.4E-04		25
rs1223231582	PRSS1	0.677	0.280	7	142750639	missense variant	A/G	snv		7.0E-06	24
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
rs74597325	CFTR	0.708	0.320	7	117587811	stop gained	C/G;T	snv	6.8E-05		18
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		18
rs75527207	CFTR	0.732	0.440	7	117587806	missense variant	G/A	snv	1.8E-04	3.0E-04	15
rs536562413	FBXO11 ; MSH6	0.732	0.240	2	47799934	missense variant	A/G	snv	1.2E-05	7.0E-06	15
rs77010898	CFTR	0.742	0.280	7	117642566	stop gained	G/A;C	snv	4.6E-04; 4.0E-06		13
rs74315364	RNASEL	0.732	0.200	1	182586014	stop gained	C/A	snv	3.6E-03; 4.0E-06	3.3E-03	13
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
rs1800076	CFTR	0.763	0.200	7	117509093	missense variant	G/A;T	snv	1.5E-02; 8.0E-06		10
rs777418530	CRISPLD2	0.763	0.120	16	84845883	missense variant	A/G	snv	4.0E-06	7.0E-06	10
rs13428812	DNMT3A	0.827	0.120	2	25269598	intron variant	A/G	snv		0.31	9
rs4792311	ELAC2	0.776	0.160	17	13011692	missense variant	G/A;C	snv	0.27		9
rs74551128	CFTR-AS1 ; CFTR	0.807	0.160	7	117548795	missense variant	C/A;T	snv	5.3E-05; 5.7E-05		8
rs5030739	ELAC2	0.776	0.160	17	12996585	missense variant	C/T	snv	3.5E-02	2.9E-02	8