DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs2642438	MTARC1			1	220796686	missense variant	A/G	snv	0.75	0.78	6
rs139089160	CDA			1	20592062	intron variant	G/A;T	snv			1
rs143370804	EIF4G3			1	21024072	intron variant	G/A	snv		0.34	1
rs1780324				1	21495264	intergenic variant	A/G	snv		0.48	1
rs1827293	NBPF3			1	21468895	missense variant	A/G	snv	0.53	0.45	1
rs1976403	NBPF3			1	21439960	upstream gene variant	A/C	snv		0.33	1
rs2229450	ECE1			1	21247229	synonymous variant	G/A;C	snv	0.22		1
rs2242420	ALPL			1	21578036	3 prime UTR variant	C/T	snv		0.11	1
rs36053309				1	21579111	downstream gene variant	C/G;T	snv		0.21	1
rs4654971	ALPL			1	21571410	intron variant	T/C	snv		7.8E-02	1
rs74614333	ALPL			1	21518031	intron variant	T/A	snv		0.13	1
rs77972946	RAP1GAP			1	21628472	intron variant	C/A;G;T	snv			1
rs16856332	ABCB11			2	168984064	intron variant	T/A;G	snv			1
rs2593704	MGAT5			2	134247706	intron variant	G/C	snv		0.80	1
rs1126478	LTF	0.763	0.240	3	46459723	missense variant	T/C	snv	0.41	0.51	1
rs73766540				5	82427213	intergenic variant	T/A;C	snv			1
rs6911965	GPLD1			6	24480067	intron variant	T/A;C	snv			2
rs12197384	KIAA0319			6	24549087	intron variant	C/T	snv		7.5E-02	1
rs138612106	GPLD1			6	24427826	3 prime UTR variant	A/G	snv		0.17	1
rs144391488	BTNL2 ; TSBP1-AS1			6	32400783	intron variant	C/G;T	snv			1
rs150674717	ALDH5A1			6	24512970	intron variant	G/A	snv		2.0E-04	1
rs17300770	GPLD1			6	24462792	missense variant	G/C	snv	0.12	0.10	1
rs1883415	GPLD1	0.925	0.040	6	24491247	intron variant	A/C	snv		0.34	1
rs189263035	GPLD1			6	24489732	intron variant	G/C;T	snv			1
rs3181238	TDP2			6	24654215	intron variant	C/G;T	snv			1