DisGeNET - a database of gene-disease associations

List of associated variants

Pediatric Crohn's disease, C2931133

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
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs2241880	SCARNA5 ; ATG16L1	0.627	0.600	2	233274722	missense variant	A/G	snv	0.45	0.44	37
rs1343151	IL23R	0.752	0.400	1	67253446	intron variant	G/A	snv		0.41	10
rs1248696	DLG5	0.807	0.080	10	77856847	missense variant	T/A;C	snv	0.93		8
rs3792876	SLC22A4	0.790	0.280	5	132301616	intron variant	C/T	snv		6.9E-02	7
rs2165047	DLG5	1.000	0.040	10	77791882	3 prime UTR variant	C/T	snv		0.26	2