DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Inflammatory Bowel Diseases ×

Variants associated to the Gene: NOD2 ×

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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
rs2066844	NOD2	0.587	0.520	16	50712015	missense variant	C/T	snv	2.6E-02	2.9E-02	5
rs2066845	NOD2	0.611	0.600	16	50722629	missense variant	G/C;T	snv	1.1E-02; 2.2E-04		5
rs5743293	NOD2	0.807	0.200	16	50729868	frameshift variant	C/-;CC	delins			5
rs2076756	NOD2	0.882	0.040	16	50722970	intron variant	A/G	snv		0.17	2
rs5743289	NOD2	1.000	0.040	16	50722863	intron variant	C/G;T	snv			2
rs17221417	NOD2	0.925	0.040	16	50705671	intron variant	C/G	snv		0.20	1