DisGeNET - a database of gene-disease associations

List of associated variants

Prion Diseases, C0162534

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
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
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
rs11136000	CLU	0.752	0.160	8	27607002	intron variant	T/C	snv		0.56	19
rs1990622		0.742	0.200	7	12244161	downstream gene variant	A/G	snv		0.52	16
rs74315408	PRNP	0.752	0.280	20	4699758	missense variant	G/A	snv	6.4E-05	4.2E-05	16
rs3851179		0.752	0.280	11	86157598	downstream gene variant	T/C	snv		0.70	15
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
rs767181086	LAMC2	0.827	0.240	1	183220922	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		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
rs3764650	ABCA7	0.790	0.200	19	1046521	intron variant	T/G	snv		0.14	9
rs3849942	C9orf72 ; LOC107987057	0.776	0.200	9	27543283	non coding transcript exon variant	T/A;C	snv			9
rs744373		0.851	0.160	2	127137039	downstream gene variant	A/G	snv		0.35	8
rs3865444	CD33	0.851	0.160	19	51224706	upstream gene variant	C/A	snv		0.25	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
rs393152	LINC02210 ; LINC02210-CRHR1	0.851	0.160	17	45641777	non coding transcript exon variant	A/G	snv	0.18	0.29	7
rs74315402	PRNP	0.882	0.200	20	4699570	missense variant	C/T	snv			7
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
rs610932	MS4A6A	0.851	0.080	11	60171834	downstream gene variant	T/G	snv		0.57	5
rs16990018	PRNP	0.882	0.120	20	4699732	missense variant	A/G	snv	3.8E-03	1.6E-02	5