DisGeNET - a database of gene-disease associations

List of associated variants

Pneumonia, Interstitial, C0206061

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
rs35705950		0.763	0.240	11	1219991	splice region variant	G/A;T	snv			14
rs1553553086	FARSB	0.827	0.280	2	222623699	missense variant	C/T	snv			9
rs1396171148	FARSB	0.851	0.200	2	222613892	missense variant	T/G	snv			5
rs1419129874	FARSB	0.851	0.200	2	222642894	missense variant	A/G	snv		7.0E-06	5
rs1466642025	FARSB	0.851	0.200	2	222631635	missense variant	A/G	snv		7.0E-06	5
rs1553554543	FARSB	0.851	0.200	2	222631606	missense variant	T/C	snv			5
rs5743890	TOLLIP	0.925	0.040	11	1304599	intron variant	T/C	snv		9.7E-02	4
rs754831645	SFTPC	0.925	0.080	8	22163134	missense variant	G/A	snv	4.0E-06		2
rs1451499324	SFTPC ; BMP1	0.925	0.080	8	22163902	missense variant	C/G	snv	8.1E-06	1.4E-05	2