DisGeNET - a database of gene-disease associations

List of associated variants

Episodic Kinesigenic Dyskinesia 1, C4552000

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
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs587778771	LOC112268170 ; PRRT2	0.827	0.120	16	29813695	frameshift variant	C/-;CC;CCC	delins			5
rs387907126	LOC112268170 ; PRRT2	0.851	0.120	16	29813772	stop gained	C/T	snv	4.2E-06		4
rs1567379016	LOC112268170 ; PRRT2	0.882	0.120	16	29813358	frameshift variant	G/-	del			3
rs387907128	LOC112268170 ; PRRT2	0.925	0.080	16	29813850	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs387907127	PRRT2 ; LOC112268170	0.925	0.120	16	29813541	stop gained	C/T	snv			2
rs397514579	PRRT2 ; LOC112268170	0.925	0.080	16	29813802	stop gained	C/T	snv	4.0E-06		2
rs1301400509	PRRT2 ; PAGR1	0.925	0.080	16	29814412	missense variant	C/T	snv		7.0E-06	2
rs1567379819	LOC112268170 ; PRRT2	1.000	0.080	16	29813715	stop gained	C/T	snv			1
rs76335820	LOC112268170 ; PRRT2	1.000	0.080	16	29813701	missense variant	C/A;G;T	snv	5.1E-04; 1.5E-04; 6.9E-03		1
rs77838305	LOC112268170 ; PRRT2	1.000	0.080	16	29813703	stop gained	C/A;G;T	snv			1
rs1555502708	PRRT2 ; LOC112268170	1.000	0.080	16	29813586	frameshift variant	CAAG/-	delins			1
rs397515576	PRRT2 ; LOC112268170	1.000	0.080	16	29813562	frameshift variant	-/T	delins			1
rs730882065	PRRT2 ; LOC112268170	1.000	0.080	16	29813564	frameshift variant	TCTG/-	delins			1
rs730882066	PRRT2 ; PAGR1	1.000	0.080	16	29814425	frameshift variant	A/-	del			1
rs767799831	PRRT2 ; PAGR1	1.000	0.080	16	29814366	missense variant	G/A;C;T	snv	4.1E-06; 4.1E-06		1
rs932713001	PRRT2 ; PAGR1	1.000	0.080	16	29814375	missense variant	C/A;T	snv	4.1E-06; 4.1E-06		1