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	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs221794	GIGYF1			7	100684145	synonymous variant	T/C	snv	0.85	0.86	1
rs221795	GIGYF1			7	100685638	intron variant	C/T	snv		0.66	1
rs221797	GIGYF1			7	100688351	5 prime UTR variant	A/C;T	snv			2
rs221801	GIGYF1			7	100692408	intron variant	C/A;G	snv			1
rs221780		1.000	0.040	7	100699412	regulatory region variant	G/C;T	snv			2
rs221770	POP7			7	100704471	upstream gene variant	A/G;T	snv			1
rs10277087				7	100709915	downstream gene variant	G/C	snv		0.63	1
rs1734910				7	100711921	downstream gene variant	A/G	snv		0.63	1
rs506597		0.882	0.040	7	100715797	upstream gene variant	A/G	snv		0.90	4
rs1734907		0.925	0.080	7	100717894	upstream gene variant	A/G	snv		0.84	4
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs551238	EPO	0.925	0.160	7	100723905	downstream gene variant	G/T	snv		0.62	5
rs2293769	ZAN			7	100746736	intron variant	T/C	snv	0.28	0.30	1
rs2075671	ZAN			7	100747483	intron variant	G/A;C	snv			2
rs2075669	ZAN			7	100751317	intron variant	T/C	snv		0.32	1
rs6971700	ZAN			7	100755502	intron variant	A/G	snv		0.35	1
rs2293767	ZAN			7	100764052	missense variant	G/A;T	snv	0.32; 4.0E-06		1
rs10232130	ZAN			7	100768580	intron variant	C/G;T	snv	0.34	0.37	1
rs10247980	ZAN			7	100768661	missense variant	T/C	snv	0.35	0.38	1
rs2437101	EPHB4			7	100803827	intron variant	G/A	snv		4.7E-02	1
rs11821308	SBF2			11	10140898	intron variant	T/C;G	snv		0.25	1
rs16907505	SBF2			11	10150998	intron variant	A/C;G	snv			1
rs7129531	SBF2			11	10152900	intron variant	C/T	snv		0.25	1
rs2278634	SBF2			11	10162916	intron variant	C/A	snv		0.27	1
rs17293593	SBF2			11	10164742	intron variant	G/A	snv		0.18	1