DisGeNET - a database of gene-disease associations

List of associated variants

Rheumatism, C0035435

Source: ALL

Results per page

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs2304256	TYK2	0.732	0.360	19	10364976	missense variant	C/A	snv	0.27	0.23	13
rs12720356	TYK2	0.752	0.360	19	10359299	missense variant	A/C;G	snv	6.1E-02; 4.0E-06		12
rs280519	TYK2	0.752	0.320	19	10362257	splice region variant	A/C;G	snv	0.50		10
rs10903323	MSRA	0.807	0.160	8	10292057	intron variant	A/G	snv		0.15	8
rs774359492	WDHD1	0.807	0.200	14	55008684	missense variant	C/T	snv	4.0E-06	7.0E-06	7
rs12720270	TYK2	0.851	0.240	19	10365084	intron variant	G/A	snv	0.21	0.16	4
rs4329505	IL6R	0.925	0.120	1	154459944	intron variant	T/C	snv		0.22	3
rs11466657	TLR10	0.925	0.120	4	38774173	missense variant	A/G	snv	2.7E-02; 4.0E-06	2.4E-02	3
rs280500	TYK2	0.882	0.200	19	10379726	5 prime UTR variant	A/G	snv		0.20	3
rs11265618	IL6R	1.000	0.080	1	154457616	intron variant	C/T	snv		0.22	2
rs11541076	IRAK3	1.000	0.080	12	66254548	3 prime UTR variant	A/T	snv		0.22	2
rs461266	LOC105370317	1.000	0.080	13	93033713	intron variant	T/C	snv			2
rs280523	TYK2	0.925	0.120	19	10366530	synonymous variant	G/A;C	snv	7.2E-02; 4.0E-06		2
rs8108236	TYK2	0.925	0.120	19	10355156	intron variant	G/A	snv		9.3E-02	2