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
rs2066844	NOD2	0.587	0.520	16	50712015	missense variant	C/T	snv	2.6E-02	2.9E-02	54
rs2066845	NOD2	0.611	0.600	16	50722629	missense variant	G/C;T	snv	1.1E-02; 2.2E-04		46
rs2066847	NOD2	0.716	0.400	16	50729868	frameshift variant	C/-;CC	delins		1.5E-02	18
rs104895467	NOD2	0.851	0.120	16	50716899	missense variant	A/G	snv	1.2E-03	7.5E-04	5
rs104895461	NOD2	0.882	0.120	16	50710912	missense variant	G/A;C	snv			4
rs104895462	NOD2	0.882	0.120	16	50710911	missense variant	C/T	snv			3
rs104895477	NOD2	0.925	0.120	16	50711058	stop gained	G/A;T	snv	3.6E-05		3
rs104895438	NOD2	0.925	0.120	16	50711745	missense variant	G/A;T	snv	6.4E-04; 5.6E-05		2
rs104895460	NOD2	0.925	0.080	16	50711316	missense variant	C/T	snv			2
rs104895473	NOD2	0.925	0.120	16	50711449	missense variant	T/C	snv			2
rs104895476	NOD2	0.925	0.160	16	50711057	missense variant	C/G;T	snv	4.8E-05		2
rs200120741	AHSA1	1.000	0.080	14	77469173	missense variant	G/A	snv	2.4E-05		1
rs104895472	NOD2	1.000	0.080	16	50711398	missense variant	A/T	snv			1
rs104895474	NOD2	1.000	0.080	16	50711724	missense variant	A/C	snv			1
rs104895475	NOD2	1.000	0.080	16	50711921	missense variant	C/A;G;T	snv	2.4E-05		1
rs104895478	NOD2	1.000	0.080	16	50711395	missense variant	G/A	snv			1
rs104895479	NOD2	1.000	0.080	16	50711670	missense variant	C/T	snv			1
rs104895480	NOD2	1.000	0.080	16	50711380	missense variant	G/T	snv			1
rs104895493	NOD2	1.000	0.080	16	50711059	missense variant	A/G	snv			1
rs104895494	NOD2	1.000	0.080	16	50711353	missense variant	G/A	snv			1
rs746911440	NOD2	1.000	0.080	16	50723305	missense variant	G/A;T	snv	8.0E-06		1
rs756199484	RIPK2	1.000	0.080	8	89784054	missense variant	A/G	snv	1.3E-05		1