DisGeNET - a database of gene-disease associations

List of associated variants

Behcet Syndrome, C0004943

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs1884444	IL23R ; C1orf141	0.637	0.600	1	67168129	missense variant	G/T	snv	0.52	0.51	34
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs7517847	IL23R ; C1orf141	0.689	0.600	1	67215986	intron variant	T/G	snv		0.37	19
rs2890565	UTS2	0.732	0.440	1	7849677	missense variant	C/T	snv	8.7E-02	5.6E-02	15
rs228648	UTS2	0.776	0.360	1	7853370	missense variant	G/A	snv	0.51	0.52	13
rs7528684	FCRL3	0.752	0.560	1	157701026	upstream gene variant	A/G	snv		0.57	13
rs2488457	AP4B1-AS1 ; PTPN22	0.763	0.480	1	113872746	intron variant	G/A;C	snv			11
rs3024490	IL10 ; IL19	0.742	0.520	1	206771966	intron variant	A/C;G;T	snv			11
rs11209032		0.752	0.400	1	67274409	upstream gene variant	G/A	snv		0.30	10
rs1343151	IL23R	0.752	0.400	1	67253446	intron variant	G/A	snv		0.41	10
rs1518111	IL19 ; IL10	0.790	0.360	1	206771300	intron variant	T/C	snv		0.71	9
rs3789604	RSBN1 ; AP4B1-AS1	0.776	0.360	1	113812320	synonymous variant	T/A;C;G	snv	8.5E-06; 1.3E-05; 0.17		9
rs1495965		0.790	0.280	1	67287825	intergenic variant	C/T	snv		0.55	8
rs3021094	IL10 ; IL19	0.827	0.360	1	206771607	intron variant	T/G	snv		8.0E-02	8
rs121908147	NLRP3	0.807	0.280	1	247424041	missense variant	G/A;C	snv	8.3E-03; 4.0E-06		7
rs1554286	IL19 ; IL10	0.790	0.320	1	206770888	5 prime UTR variant	A/G;T	snv	0.72		7
rs17375018	C1orf141 ; IL23R	0.790	0.360	1	67189464	intron variant	G/A	snv		0.29	7
rs3024498	IL10	0.790	0.360	1	206768184	3 prime UTR variant	T/C	snv		0.20	7