DisGeNET - a database of gene-disease associations

List of associated variants

Pneumonia, C0032285

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
rs1217371203	CD86	0.882	0.120	3	122106342	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		4
rs113993959	CFTR	0.677	0.280	7	117587778	stop gained	G/A;T	snv	8.0E-06; 3.4E-04		25
rs1131692245	NPHS1	0.925	0.160	19	35844109	missense variant	C/T	snv			7
rs1130866	SFTPB	0.827	0.160	2	85666618	missense variant	G/A;C	snv	0.50		9
rs1057520529	FOXP3	0.851	0.320	X	49251440	missense variant	C/T	snv			5
rs1057518733	SMARCD2	0.807	0.280	17	63837439	splice donor variant	A/G	snv			7
rs1057518731	SMARCD2	0.807	0.280	17	63833908	splice donor variant	C/T	snv			7
rs1045411	HMGB1	0.708	0.360	13	30459095	3 prime UTR variant	C/T	snv		0.20	18