DisGeNET - a database of gene-disease associations

List of associated variants

Uveitis, C0042164

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
rs2358820	VTCN1	1.000	0.040	1	117169289	intron variant	G/A	snv		5.3E-02	1
rs10863888	TRAF5	0.851	0.280	1	211329427	intron variant	A/C;G;T	snv			4
rs1805110	TGFBR3	0.882	0.200	1	91861488	missense variant	G/A	snv	0.13	0.13	3
rs2489188	TGFBR3	0.925	0.200	1	91866932	intron variant	C/T	snv		0.65	2
rs1040461	RAB23	1.000	0.040	6	57190556	missense variant	C/T	snv	9.8E-02	0.12	1
rs1893217	PTPN2	0.742	0.440	18	12809341	intron variant	A/G	snv		0.12	14
rs7565639	PDCD1 ; LOC105373977	0.882	0.160	2	241854911	intron variant	T/A;C	snv			3
rs104895462	NOD2	0.882	0.120	16	50710911	missense variant	C/T	snv			3
rs104895460	NOD2	0.925	0.080	16	50711316	missense variant	C/T	snv			2
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs703842	METTL1 ; CYP27B1	0.851	0.240	12	57768956	missense variant	A/G	snv	0.38	0.33	4
rs12569232	LOC107985258	0.882	0.280	1	211379722	intron variant	G/C;T	snv			4
rs7421861	LOC105373977 ; PDCD1	0.790	0.200	2	241853198	intron variant	A/G;T	snv			9
rs6710479	LOC105373977 ; PDCD1	0.882	0.200	2	241855866	intron variant	T/C	snv		0.51	3
rs10044354	LNPEP	1.000	0.040	5	96984791	intron variant	C/T	snv		0.41	1
rs4505848	KIAA1109	0.776	0.400	4	122211337	intron variant	A/G	snv		0.29	8
rs6897932	IL7R	0.683	0.560	5	35874473	missense variant	C/T	snv	0.23	0.21	25
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs2104286	IL2RA	0.662	0.440	10	6057082	intron variant	T/C	snv		0.18	25
rs12722489	IL2RA	0.882	0.160	10	6060049	intron variant	C/T	snv		0.11	3
rs4788084	IL27	0.827	0.200	16	28528527	downstream gene variant	C/T	snv		0.36	6
rs7517847	IL23R ; C1orf141	0.689	0.600	1	67215986	intron variant	T/G	snv		0.37	19
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs11465804	IL23R	0.752	0.320	1	67236843	intron variant	T/G	snv	4.4E-02	5.4E-02	10