DisGeNET - a database of gene-disease associations

List of shared variants

Creutzfeldt-Jakob Disease, Familial, C0751254

Disease: Creutzfeldt-Jakob Disease, Sporadic

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
rs74315408	PRNP	0.752	0.280	20	4699758	missense variant	G/A	snv	6.4E-05	4.2E-05	16
rs74315407	PRNP	0.732	0.240	20	4699848	missense variant	G/A	snv	8.0E-06	2.1E-05	15
rs74315409	PRNP	0.742	0.240	20	4699915	missense variant	T/G	snv	6.0E-05	2.1E-05	13
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
rs74315412	PRNP	0.851	0.120	20	4699843	missense variant	G/A	snv	6.0E-05	3.5E-05	5