DisGeNET - a database of gene-disease associations

List of associated variants

Gerstmann-Straussler-Scheinker Disease, C0017495

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
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs28933385	PRNP	0.695	0.320	20	4699818	missense variant	G/A	snv	4.0E-06		25
rs3808607	CYP7A1	0.716	0.400	8	58500365	upstream gene variant	G/T	snv		0.55	16
rs74315408	PRNP	0.752	0.280	20	4699758	missense variant	G/A	snv	6.4E-05	4.2E-05	16
rs74315409	PRNP	0.742	0.240	20	4699915	missense variant	T/G	snv	6.0E-05	2.1E-05	13
rs4148217	ABCG8	0.790	0.280	2	43872294	missense variant	C/A;T	snv	0.21; 1.2E-05		11
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
rs1801175	G6PC	0.807	0.240	17	42903947	missense variant	C/T	snv	5.7E-04	3.4E-04	8
rs11538758	PRNP	0.882	0.160	20	4699534	missense variant	C/A;T	snv			8
rs74315413	PRNP	0.807	0.160	20	4699780	missense variant	A/G	snv			8
rs74315402	PRNP	0.882	0.200	20	4699570	missense variant	C/T	snv			7
rs2081687		0.882	0.240	8	58476006	intergenic variant	T/C	snv		0.70	6
rs74315405	PRNP	0.827	0.160	20	4699813	missense variant	T/C	snv			6
rs372805579	CARD14	0.851	0.200	17	80195302	missense variant	G/A	snv	2.4E-05	2.8E-05	5
rs74315406	PRNP	0.851	0.160	20	4699870	missense variant	A/G	snv			5
rs74315414	PRNP	0.882	0.200	20	4699533	missense variant	C/A;T	snv	4.0E-06		5
rs773819452	ECD	0.851	0.200	10	73160449	missense variant	G/A	snv	4.2E-06		4
rs193922906	PRNP	0.882	0.160	20	4699380	inframe insertion	TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	delins			4
rs398122370	PRNP	0.925	0.160	20	4699851	missense variant	G/C	snv			4
rs761807915	PRNP	0.925	0.120	20	4699824	missense variant	G/A	snv	4.0E-06	7.0E-06	4
rs368821179	CARD14	0.925	0.160	17	80182758	missense variant	T/C	snv	8.0E-06	2.1E-05	3
rs3758650	CDHR5 ; IRF7	0.882	0.240	11	616865	3 prime UTR variant	G/A	snv	5.8E-02	4.7E-02	3