DisGeNET - a database of gene-disease associations

List of associated variants

Exfoliation Syndrome, C0206368

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs7137828	ATXN2	0.763	0.200	12	111494996	intron variant	C/A;T	snv			15
rs2165241	LOXL1-AS1 ; LOXL1	0.716	0.360	15	73929861	intron variant	T/C	snv		0.60	15
rs3825942	LOXL1 ; LOXL1-AS1	0.716	0.320	15	73927241	missense variant	G/A;C;T	snv	0.18; 4.5E-06		15
rs1048661	LOXL1-AS1 ; LOXL1	0.732	0.320	15	73927205	missense variant	G/T	snv	0.33	0.28	14
rs2149356	TLR4	0.742	0.360	9	117711921	intron variant	T/G	snv		0.54	14
rs1057035	DICER1	0.763	0.440	14	95087805	3 prime UTR variant	T/C	snv		0.26	12
rs267606664	APOE	0.851	0.120	19	44908730	missense variant	G/A;C	snv	1.6E-04; 6.3E-06		5
rs2279590	CLU	0.851	0.200	8	27598736	non coding transcript exon variant	T/C	snv		0.69	5
rs4886425		1.000	0.040	15	73832202	intergenic variant	A/G	snv		0.71	2
rs1466963971	APOE	0.925	0.120	19	44908640	missense variant	T/G	snv	4.5E-06		2
rs1992314	LOXL1	0.925	0.040	15	73931426	intron variant	C/G	snv		0.29	2
rs16958477	LOXL1-AS1 ; LOXL1	0.925	0.040	15	73926125	5 prime UTR variant	A/C	snv		0.33	2
rs41435250	LOXL1 ; LOXL1-AS1	0.925	0.040	15	73927743	synonymous variant	G/T	snv	6.1E-02	3.7E-02	2
rs8006686	MTHFD1	0.925	0.040	14	64401953	intron variant	T/C	snv		0.22	2
rs12914489	TBC1D21	1.000	0.040	15	73895596	intergenic variant	G/A;T	snv		8.2E-02	2
rs10519015		1.000	0.040	15	73833614	intergenic variant	T/A;C	snv			1