DisGeNET - a database of gene-disease associations

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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
rs2066847	NOD2	0.716	0.400	16	50729868	frameshift variant	C/-;CC	delins		1.5E-02	2
rs199883290	NOD2	0.925	0.120	16	50729867	missense variant	G/A;C	snv	4.0E-06; 1.5E-02	7.0E-06	2
rs540973741	NOD2	0.925	0.120	16	50729868	frameshift variant	C/-;CC	delins			2
rs5743293	NOD2	0.807	0.200	16	50729868	frameshift variant	C/-;CC	delins			2
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
rs8056611	NOD2	1.000	0.040	16	50733736	3 prime UTR variant	A/G	snv		0.56	1
rs2066842	NOD2	0.763	0.200	16	50710713	missense variant	C/A;T	snv	4.0E-06; 0.19		1
rs749910	NOD2	1.000	0.040	16	50724938	intron variant	G/A	snv		0.17	1
rs751271	NOD2	1.000	0.040	16	50717264	intron variant	T/G	snv		0.61	1
rs17313265	NOD2	1.000	0.040	16	50713793	intron variant	C/T	snv		0.20	1
rs8057341	NOD2	0.925	0.080	16	50704069	intron variant	A/G	snv		0.68	1
rs17312836	NOD2	1.000	0.040	16	50707551	intron variant	A/C	snv		0.33	1
rs2066844	NOD2	0.587	0.520	16	50712015	missense variant	C/T	snv	2.6E-02	2.9E-02	1
rs2066845	NOD2	0.611	0.600	16	50722629	missense variant	G/C;T	snv	1.1E-02; 2.2E-04		1
rs3135499	NOD2	0.882	0.160	16	50732216	splice donor variant	A/C	snv		0.45	1
rs17221417	NOD2	0.925	0.040	16	50705671	intron variant	C/G	snv		0.20	1
rs2076753	NOD2	1.000	0.040	16	50699463	intron variant	G/A;T	snv	0.20		1
rs5743291	NOD2	0.925	0.040	16	50723365	missense variant	G/A	snv	6.3E-02	6.0E-02	1
rs2066843	NOD2	0.925	0.040	16	50711288	synonymous variant	C/A;T	snv	0.19		1