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
rs2294021	CCDC22	0.776	0.280	X	49249149	intron variant	T/A;C	snv	0.52		8
rs1057520529	FOXP3	0.851	0.320	X	49251440	missense variant	C/T	snv			5
rs1057518731	SMARCD2	0.807	0.280	17	63833908	splice donor variant	C/T	snv			7
rs1555580263	SMARCD2	0.827	0.240	17	63837200	stop gained	-/AGGTAGAACCTTATCTGCCATCTTC	delins			6
rs1057518733	SMARCD2	0.807	0.280	17	63837439	splice donor variant	A/G	snv			7
rs879253740	NPC2 ; ISCA2	0.882	0.240	14	74493191	splice donor variant	A/G	snv			5
rs796051877	GAA	0.807	0.320	17	80110055	splice region variant	G/A	snv	4.0E-06		11
rs1130866	SFTPB	0.827	0.160	2	85666618	missense variant	G/A;C	snv	0.50		9