DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs11914494	IGSF11	3	119121264	intron variant	G/A	snv		1.8E-02	2
rs11926663	IGSF11	3	119125638	intron variant	A/G	snv		1.8E-02	2
rs141827060	IGSF11	3	119132020	intron variant	C/T	snv		1.8E-02	2
rs17062789	DLGAP2	8	1203198	intron variant	G/A;C	snv			2
rs17062791	DLGAP2	8	1203431	intron variant	C/T	snv		0.14	2
rs73670671	DLGAP2	8	1203645	intron variant	T/C;G	snv			2
rs34003842	DLGAP2	8	1206131	intron variant	G/A;C;T	snv			2
rs4936767		11	123047451	upstream gene variant	A/G	snv		0.34	2
rs1461494		11	123055777	downstream gene variant	T/A;C	snv			2
rs4802	SNORD14E ; HSPA8	11	123057914	synonymous variant	A/C;G	snv	4.1E-06; 0.32		2
rs4936770	HSPA8 ; SNORD14E	11	123058167	intron variant	C/A;T	snv			2
rs11218976	CLMP	11	123090950	intron variant	A/G	snv		0.41	2
rs10892961	CLMP	11	123093392	intron variant	A/C;G;T	snv			2
rs7109445	CLMP	11	123094779	intron variant	A/C;G	snv			2
rs7121616	CLMP	11	123095918	intron variant	A/G	snv		0.41	2
rs7039098	OLFM1	9	135121473	downstream gene variant	T/C	snv		0.11	2
rs7035473	OLFM1	9	135121519	downstream gene variant	A/G	snv		0.11	2
rs7047901	OLFM1	9	135121569	downstream gene variant	G/C	snv		0.11	2
rs10119043		9	135122706	downstream gene variant	C/T	snv		0.11	2
rs731580	FGD5	3	14815331	intron variant	G/A	snv		0.31	2
rs7696218	PACRGL	4	20721189	intron variant	G/A	snv		0.11	2
rs73055009	C5orf17	5	24058406	intron variant	A/G	snv		7.5E-02	2
rs10054178	C5orf17	5	24059742	intron variant	A/G	snv		7.5E-02	2
rs113051092	C5orf17	5	24060490	intron variant	A/T	snv		7.4E-02	2
rs73055087	C5orf17	5	24062454	intron variant	C/A;T	snv			2