DisGeNET - a database of gene-disease associations

List of associated variants

Fuchs Endothelial Dystrophy, C0016781

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
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs4246215	FADS2 ; FEN1	0.677	0.320	11	61796827	3 prime UTR variant	G/C;T	snv			29
rs1760944	OSGEP ; APEX1	0.672	0.480	14	20454990	non coding transcript exon variant	T/C;G	snv			26
rs174538	TMEM258 ; MIR611 ; FEN1	0.701	0.440	11	61792609	5 prime UTR variant	G/A	snv	0.34	0.26	21
rs2274700	CFH	0.776	0.240	1	196713817	synonymous variant	G/A;C;T	snv	0.44		11
rs1052536	LIG3	0.776	0.200	17	35004556	3 prime UTR variant	C/T	snv	0.42	0.36	10
rs80358192	COL8A2	0.807	0.080	1	36098332	missense variant	A/C;G	snv	4.6E-05		6
rs613872	TCF4	0.851	0.120	18	55543071	intron variant	G/T	snv		0.88	6
rs1452787	TCF4	0.827	0.160	18	55539976	intron variant	A/G	snv		0.24	5
rs8177179	INHCAP ; TF	0.925	0.080	3	133744613	intron variant	G/A	snv		0.58	4
rs3135967	LIG3	0.851	0.160	17	34986710	intron variant	A/G	snv		0.38	4
rs784257	LOC105372130	1.000	0.080	18	55729968	intron variant	T/A;C	snv			4
rs80358191	COL8A2	0.882	0.080	1	36098318	missense variant	G/T	snv			3
rs8177178	TF ; INHCAP	0.925	0.080	3	133744428	intron variant	G/A	snv		0.33	3
rs779148597	ZEB1	0.882	0.080	10	31521255	missense variant	G/T	snv	8.0E-06	7.0E-06	3
rs185919705	AGBL1	0.925	0.080	15	86674435	stop gained	C/T	snv	1.8E-03; 4.1E-06	2.0E-03	2
rs201235688	COL8A2	0.925	0.080	1	36098380	missense variant	C/A;T	snv	1.2E-03		2
rs727504229	COL8A2	0.925	0.080	1	36098317	missense variant	TG/AC	mnv			2
rs75864656	COL8A2	0.925	0.080	1	36099217	missense variant	C/G;T	snv	7.4E-06; 2.6E-02		2
rs1003918	LIG3	0.925	0.080	17	35005158	3 prime UTR variant	G/A	snv		0.38	2
rs373356672	NEIL1 ; MIR631	0.925	0.080	15	75354442	missense variant	C/T	snv	2.0E-05	7.0E-06	2
rs1200114		1.000	0.080	1	169091251	intron variant	G/A	snv		0.75	1