DisGeNET - a database of gene-disease associations

List of associated variants

Generalized osteoarthritis, C1384584

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs2228611	DNMT1	0.708	0.520	19	10156401	synonymous variant	T/A;C	snv	0.52		19
rs2228612	DNMT1	0.763	0.160	19	10162696	missense variant	T/A;C;G	snv	0.14		12
rs11096957	TLR10	0.790	0.160	4	38774870	missense variant	T/G	snv	0.42	0.41	8
rs4730153	NAMPT	0.882	0.120	7	106263704	intron variant	A/G	snv		0.49	3
rs2277831	MICAL3	0.925	0.040	22	17816431	intron variant	A/G	snv		0.33	2
rs16872158	NAMPT	0.925	0.040	7	106265839	intron variant	T/A	snv		1.6E-03	2
rs2058540	NAMPT	0.925	0.040	7	106276262	non coding transcript exon variant	T/C	snv		0.27	2
rs3801267	NAMPT	0.925	0.040	7	106278476	intron variant	A/T	snv		0.64	2