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 GENOME	Num. diseases
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv		32
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
rs3851179		0.752	0.280	11	86157598	downstream gene variant	T/C	snv	0.70	15
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
rs11538758	PRNP	0.882	0.160	20	4699534	missense variant	C/A;T	snv		8
rs3865444	CD33	0.851	0.160	19	51224706	upstream gene variant	C/A	snv	0.25	8
rs74315413	PRNP	0.807	0.160	20	4699780	missense variant	A/G	snv		8
rs744373		0.851	0.160	2	127137039	downstream gene variant	A/G	snv	0.35	8
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
rs610932	MS4A6A	0.851	0.080	11	60171834	downstream gene variant	T/G	snv	0.57	5
rs74315406	PRNP	0.851	0.160	20	4699870	missense variant	A/G	snv		5
rs11767557	EPHA1-AS1	0.882	0.080	7	143412046	intron variant	T/C	snv	0.18	4
rs1178466848	PRNP	0.925	0.120	20	4699785	missense variant	G/A	snv	2.8E-05	4
rs193922906	PRNP	0.882	0.160	20	4699380	inframe insertion	TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	delins		4
rs2736990	SNCA	0.882	0.080	4	89757390	intron variant	G/A;T	snv		4
rs2814707	LOC112268043 ; C9orf72 ; LOC107987057	0.882	0.120	9	27536399	non coding transcript exon variant	C/G;T	snv		4
rs398122370	PRNP	0.925	0.160	20	4699851	missense variant	G/C	snv		4
rs74315411	PRNP	0.882	0.160	20	4699767	missense variant	A/G	snv		4
rs80356711	PRNP	1.000		20	4699698	stop gained	C/T	snv		4
rs12817488	CCDC62	1.000	0.040	12	122811747	intron variant	G/A	snv	0.39	3
rs1473972013	CYP4X1	0.925	0.160	1	47035911	missense variant	G/A	snv	7.0E-06	3