DisGeNET - a database of gene-disease associations

List of associated variants

SVEINSSON CHORIORETINAL ATROPHY, C1862382

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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs1799971	OPRM1	0.559	0.600	6	154039662	missense variant	A/G	snv	0.19	0.12	95
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs1800682	ACTA2 ; FAS	0.637	0.440	10	88990206	non coding transcript exon variant	A/G	snv		0.54	32
rs4244285	CYP2C19	0.695	0.360	10	94781859	synonymous variant	G/A;C	snv	0.18		18
rs368234815	IFNL4	0.742	0.280	19	39248514	frameshift variant	TT/G;T	delins			15
rs2233406	NFKBIA	0.732	0.440	14	35405593	upstream gene variant	G/A	snv		0.26	12
rs7763881	HULC ; LOC100506207	0.776	0.160	6	8653014	non coding transcript exon variant	A/C	snv		0.44	11
rs2294020	CCDC22	0.763	0.280	X	49246763	missense variant	A/G;T	snv			10
rs3138053	NFKBIA	0.790	0.280	14	35405648	upstream gene variant	T/C	snv		0.26	10
rs9333025	CYP4A11	0.851	0.200	1	46931231	intron variant	C/T	snv		9.4E-02	8
rs5030772	FASLG	0.790	0.320	1	172664210	intron variant	A/G	snv		9.9E-02	7
rs12942547	STAT3	0.807	0.200	17	42375526	intron variant	A/G;T	snv			7
rs2763979	HSPA1B	0.827	0.360	6	31826815	upstream gene variant	C/T	snv		0.45	5
rs2768759		0.851	0.200	1	156882671	downstream gene variant	A/C;G	snv			4
rs1801708	EDNRA	0.925	0.160	4	147481217	5 prime UTR variant	G/A	snv		0.46	4
rs6457452	HSPA1B	0.851	0.200	6	31827773	5 prime UTR variant	C/G;T	snv	8.5E-05; 9.3E-02; 1.4E-05		4
rs2069429	CCNB1	0.882	0.160	5	69166926	upstream gene variant	G/A	snv		1.6E-02	3
rs3862434	CRTC3	1.000	0.080	15	90537155	intron variant	A/G	snv		0.48	3
rs378299	ICOSLG	0.882	0.160	21	44241460	upstream gene variant	C/T	snv			3
rs11567847	TEAD1	0.925	0.120	11	12937202	missense variant	T/C	snv			3
rs489693		1.000	0.080	18	60215554	intergenic variant	C/A;T	snv			2
rs2069433	CCNB1	0.925	0.160	5	69171680	intron variant	T/C	snv		0.11	2