DisGeNET - a database of gene-disease associations

List of associated variants

Fatal Familial Insomnia, C0206042

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
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs57095329	MIR3142HG	0.677	0.480	5	160467840	intron variant	A/G	snv		7.8E-02	25
rs28933385	PRNP	0.695	0.320	20	4699818	missense variant	G/A	snv	4.0E-06		25
rs1799990	PRNP	0.683	0.440	20	4699605	missense variant	A/G	snv	0.31	0.33	23
rs74315407	PRNP	0.732	0.240	20	4699848	missense variant	G/A	snv	8.0E-06	2.1E-05	15
rs1800014	PRNP	0.776	0.200	20	4699875	missense variant	G/A	snv	8.0E-03	2.2E-03	11
rs74315403	PRNP	0.790	0.200	20	4699752	missense variant	G/A	snv			10
rs295301		0.851	0.160	3	141619799	downstream gene variant	G/A	snv		0.38	5
rs773268484	AQP1	0.851	0.120	7	30922174	frameshift variant	G/-	delins	4.0E-06	7.0E-06	4
rs868861597	CARD14	0.925	0.120	17	80192587	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs1371500051	APP	1.000	0.080	21	26051052	missense variant	C/T	snv	4.0E-06		1
rs1447174024	GPI	1.000	0.080	19	34377518	missense variant	G/A	snv	1.6E-05	1.4E-05	1
rs745339194	MAPT	1.000	0.080	17	45983333	missense variant	G/A	snv	4.5E-06		1
rs1332033395	MDH1 ; WDPCP	1.000	0.080	2	63604822	missense variant	G/A	snv	8.0E-06	1.4E-05	1
rs6116475	PRNP	1.000	0.080	20	4696723	intron variant	A/G	snv		0.21	1
rs377316252	SEMA6A	1.000	0.080	5	116488915	missense variant	C/A;T	snv	4.8E-06; 1.1E-04		1