DisGeNET - a database of gene-disease associations

List of shared variants

Age related macular degeneration, C0242383

Disease: Kidney Diseases

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
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
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs121913059	CFH	0.716	0.280	1	196747245	missense variant	C/T	snv	1.4E-04	1.9E-04	16
rs6677604	CFH	0.827	0.200	1	196717788	intron variant	G/A	snv		0.23	7
rs841853	SLC2A1	0.882	0.200	1	42935767	intron variant	A/C	snv		0.66	4