DisGeNET - a database of gene-disease associations

List of shared variants

Creutzfeldt-Jakob disease, C0022336

Disease: Fatal Familial Insomnia

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
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