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
rs2058660	IL18RAP	0.882	0.280	2	102437989	intron variant	G/A	snv		0.78	4
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs2617170	KLRC4 ; KLRC4-KLRK1	1.000	0.200	12	10408358	missense variant	T/C	snv	0.63	0.61	1
rs573775	ATG5	0.851	0.320	6	106316991	intron variant	G/A	snv		0.34	4
rs12932187	LOC105371080 ; CIITA	0.925	0.320	16	10878023	intron variant	C/G;T	snv			2
rs104895297	MVK	0.882	0.360	12	109581427	missense variant	C/T	snv			3
rs28934897	MVK	0.790	0.400	12	109596515	missense variant	G/A	snv	1.6E-03	1.5E-03	10
rs13210247	TRAF3IP2-AS1 ; TRAF3IP2	0.882	0.280	6	111601517	non coding transcript exon variant	A/G	snv		0.10	3
rs3811047	IL37	0.807	0.400	2	112913833	missense variant	A/G	snv	0.71	0.60	10
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
rs9577873	GAS6 ; GAS6-AS1	1.000	0.200	13	113825282	intron variant	G/A;T	snv			1
rs1310182	AP4B1-AS1 ; PTPN22	0.882	0.360	1	113830881	intron variant	A/C;G	snv		0.56	4
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs2488457	AP4B1-AS1 ; PTPN22	0.763	0.480	1	113872746	intron variant	G/A;C	snv			11
rs6318	HTR2C ; LOC105373313	0.623	0.520	X	114731326	missense variant	C/G;T	snv			42
rs4246905	TNFSF15	0.716	0.400	9	114790969	missense variant	T/A;C	snv	0.76		16
rs7028891	DELEC1	0.925	0.280	9	114882735	intron variant	A/G	snv		0.50	2
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs2269067	C5	0.827	0.360	9	120974762	intron variant	G/C	snv	0.20	0.30	5
rs17006292	TFCP2L1	1.000	0.200	2	121261187	intron variant	C/A	snv		2.8E-02	1