DisGeNET - a database of gene-disease associations

List of associated variants

Creutzfeldt-Jakob Disease, Familial, C0751254

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
rs372805579	CARD14	0.851	0.200	17	80195302	missense variant	G/A	snv	2.4E-05	2.8E-05	5
rs74315412	PRNP	0.851	0.120	20	4699843	missense variant	G/A	snv	6.0E-05	3.5E-05	5
rs1290309353	AZIN2	0.882	0.120	1	33096833	missense variant	A/G	snv	4.0E-06		3
rs1405757246	GPI	0.882	0.120	19	34379521	missense variant	T/C	snv			3
rs140842009	GPI	0.882	0.120	19	34378959	missense variant	C/A;T	snv	4.0E-06; 5.2E-05		3
rs1191139947	PRNP	0.882	0.120	20	4699935	missense variant	C/T	snv			3
rs751882709	PRNP	0.925	0.160	20	4699855	missense variant	A/C	snv	1.6E-05	2.8E-05	3
rs1378923121	MAPT	0.925	0.120	17	45983474	missense variant	G/A	snv	8.2E-06	7.0E-06	2
rs372878791	PRNP	1.000	0.120	20	4699783	missense variant	C/G;T	snv	3.2E-05; 4.0E-05		2
rs1456103222	MAPT	1.000	0.120	17	45983399	missense variant	G/A	snv	4.2E-06	1.4E-05	1