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
rs2297518	NOS2	0.658	0.480	17	27769571	missense variant	G/A	snv	0.18	0.17	29
rs2779249	NOS2	0.851	0.200	17	27801555	intron variant	C/A	snv		0.33	7
rs1060826	NOS2	0.851	0.160	17	27762841	synonymous variant	T/C	snv	0.66	0.67	4
rs1137933	NOS2	0.882	0.160	17	27778906	synonymous variant	G/A	snv	0.20	0.21	4
rs2779248	NOS2	0.882	0.160	17	27800806	intron variant	T/C	snv		0.39	4
rs4795067	NOS2	0.882	0.280	17	27779649	intron variant	A/G	snv		0.31	3
rs10459953	NOS2	0.925	0.080	17	27800492	5 prime UTR variant	C/A;G;T	snv			3
rs17722851	NOS2	0.925	0.040	17	27783810	intron variant	T/A	snv		9.9E-02	2
rs944722	NOS2	1.000	0.080	17	27765011	intron variant	C/T	snv		0.67	1
rs12720460	NOS2			17	27801261	intron variant	ATTT/-;ATTTATTT;ATTTATTTATTT	delins			1
rs3730017	NOS2	1.000	0.080	17	27782076	missense variant	G/A	snv	3.7E-02	7.2E-02	1
rs8078340	NOS2	1.000	0.040	17	27802186	intron variant	G/A;C	snv			1
rs6505469	NOS2	1.000	0.080	17	27784860	intron variant	T/A;C	snv			1
rs2255929	NOS2	1.000	0.040	17	27760941	intron variant	T/A	snv		0.49	1
rs28998802	NOS2	0.807	0.120	17	27797882	intron variant	G/A	snv		0.11	1
rs9282799	NOS2	1.000	0.080	17	27801702	intron variant	G/A	snv		1.5E-02	1
rs8072199	NOS2	1.000	0.040	17	27789822	intron variant	C/T	snv		0.35	1
rs367627018	NOS2			17	27787792	missense variant	G/C	snv	2.8E-05	2.1E-05	1
rs8068149	NOS2	1.000	0.040	17	27761829	intron variant	G/A	snv		0.48	1
rs9282801	NOS2	1.000	0.040	17	27769447	intron variant	C/A	snv		0.32	1
rs1060822	NOS2	1.000	0.040	17	27765605	synonymous variant	A/G	snv	0.66	0.68	1
rs2248814	NOS2	1.000		17	27773295	intron variant	A/C;G	snv	0.65		1