DisGeNET - a database of gene-disease associations

List of associated variants

Behcet Syndrome, C0004943

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
rs3212227	IL12B	0.566	0.840	5	159315942	3 prime UTR variant	T/G	snv		0.26	65
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs2066844	NOD2	0.587	0.520	16	50712015	missense variant	C/T	snv	2.6E-02	2.9E-02	54
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs2066845	NOD2	0.611	0.600	16	50722629	missense variant	G/C;T	snv	1.1E-02; 2.2E-04		46
rs755622	MIF-AS1 ; MIF	0.611	0.720	22	23894205	intron variant	G/C	snv		0.26	44
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs6318	HTR2C ; LOC105373313	0.623	0.520	X	114731326	missense variant	C/G;T	snv			42
rs352140	TLR9	0.630	0.680	3	52222681	synonymous variant	C/A;G;T	snv	2.0E-05; 0.49		42
rs3804099	TLR2	0.627	0.680	4	153703504	synonymous variant	T/C	snv	0.40	0.48	40
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
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
rs17235409	SLC11A1	0.653	0.600	2	218395009	missense variant	G/A;C	snv	4.9E-02; 4.1E-06		31
rs17577	SLC12A5-AS1 ; MMP9	0.649	0.520	20	46014472	missense variant	G/A;C	snv	0.16		31
rs1800450	MBL2	0.662	0.640	10	52771475	missense variant	C/T	snv	0.14	0.11	26
rs12785878	NADSYN1	0.677	0.520	11	71456403	intron variant	G/A;T	snv			25
rs2250889	SLC12A5-AS1 ; MMP9	0.667	0.520	20	46013767	missense variant	G/C;T	snv	0.88; 1.6E-05		24
rs4149584	TNFRSF1A	0.683	0.440	12	6333477	missense variant	C/G;T	snv	4.0E-06; 1.3E-02		24
rs696	NFKBIA	0.708	0.520	14	35401887	3 prime UTR variant	C/T	snv		0.45	22
rs744166	STAT3	0.689	0.560	17	42362183	intron variant	A/G	snv		0.48	22