DisGeNET - a database of gene-disease associations

List of associated variants

Autoimmune Diseases, C0004364

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
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs2066845	NOD2	0.611	0.600	16	50722629	missense variant	G/C;T	snv	1.1E-02; 2.2E-04		46
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs755622	MIF-AS1 ; MIF	0.611	0.720	22	23894205	intron variant	G/C	snv		0.26	44
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs1049353	CNR1	0.630	0.600	6	88143916	synonymous variant	C/T	snv	0.21	0.20	42
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv			42
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs187084	TLR9	0.641	0.480	3	52227015	intron variant	A/G	snv		0.38	36
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs1990760	IFIH1	0.672	0.480	2	162267541	missense variant	C/T	snv	0.50	0.45	33
rs745738344	TNF	0.653	0.600	6	31576786	synonymous variant	G/A	snv	1.6E-05	1.4E-05	28
rs10735810	VDR	0.662	0.640	12	47879112	start lost	A/C;G;T	snv			26
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs237025	SUMO4 ; TAB2	0.672	0.360	6	149400554	missense variant	G/A	snv	0.55	0.57	26
rs6679677	PHTF1	0.653	0.320	1	113761186	upstream gene variant	C/A	snv		6.7E-02	26
rs12785878	NADSYN1	0.677	0.520	11	71456403	intron variant	G/A;T	snv			25
rs2104286	IL2RA	0.662	0.440	10	6057082	intron variant	T/C	snv		0.18	25
rs34536443	TYK2	0.667	0.400	19	10352442	missense variant	G/C	snv	2.7E-02	2.8E-02	25
rs57095329	MIR3142HG	0.677	0.480	5	160467840	intron variant	A/G	snv		7.8E-02	25
rs6897932	IL7R	0.683	0.560	5	35874473	missense variant	C/T	snv	0.23	0.21	25
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs17561	IL1A	0.672	0.560	2	112779646	missense variant	C/A	snv	0.27	0.26	23