DisGeNET - a database of gene-disease associations

List of shared variants

Behcet Syndrome, C0004943

Disease: Immune System Diseases

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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs352140	TLR9	0.630	0.680	3	52222681	synonymous variant	C/A;G;T	snv	2.0E-05; 0.49		42
rs6822844		0.689	0.520	4	122588266	regulatory region variant	G/T	snv		0.10	20
rs4810485	CD40	0.732	0.480	20	46119308	intron variant	T/A;G	snv			16
rs1893217	PTPN2	0.742	0.440	18	12809341	intron variant	A/G	snv		0.12	14
rs17810546	IL12A-AS1	0.827	0.440	3	159947262	intron variant	A/G	snv		8.2E-02	7