DisGeNET - a database of gene-disease associations

List of associated variants

Osteoarthritis of the hand, C0263746

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
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs2243250	IL4	0.570	0.760	5	132673462	upstream gene variant	C/T	snv		0.35	61
rs187084	TLR9	0.641	0.480	3	52227015	intron variant	A/G	snv		0.38	36
rs11096957	TLR10	0.790	0.160	4	38774870	missense variant	T/G	snv	0.42	0.41	8
rs12885713	CALM1	0.827	0.200	14	90397013	intron variant	C/A;G;T	snv			5
rs781754383	EGF	0.882	0.080	4	109960942	missense variant	C/A;T	snv	8.0E-06; 4.0E-06		3
rs2243274	IL4 ; LOC105379176	0.882	0.080	5	132679140	intron variant	G/A	snv		0.34	3
rs77245812	MATN3 ; LOC101928222	0.882	0.040	2	20003169	missense variant	G/A	snv	1.5E-02	1.2E-02	3
rs179945	ATXN1	0.925	0.120	6	16396238	intron variant	C/T	snv			2
rs752149020	CALM2	0.925	0.040	2	47176459	missense variant	G/A;C	snv	4.0E-06		2
rs1805013	IL4R	0.925	0.120	16	27362659	missense variant	C/T	snv	3.6E-02	3.6E-02	2
rs1508632		1.000	0.040	6	54419678	intergenic variant	A/G	snv		0.14	1
rs788748	LOC102723446	1.000	0.040	7	45986582	upstream gene variant	A/G	snv		0.59	1
rs2273650	NFKBIA	1.000	0.040	14	35401592	3 prime UTR variant	C/T	snv		1.3E-02	1
rs2242190	PART1	1.000	0.040	5	60548019	non coding transcript exon variant	C/G	snv			1
rs8176070	PART1	1.000	0.040	5	60541649	intron variant	G/A;C;T	snv		0.26	1
rs716508	RBFOX1	1.000	0.040	16	6286911	intron variant	C/T	snv		0.56	1