DisGeNET - a database of gene-disease associations

List of associated variants

Respiratory Distress Syndrome, Adult, C0035222

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
rs3814634	CELF2 ; CELF2-AS2	1.000	0.040	10	11099442	splice region variant	G/T	snv		0.37	1
rs3848719	ZNF335	1.000	0.040	20	45967906	synonymous variant	G/A	snv	0.33	0.32	1
rs4698803	EGF	1.000	0.040	4	109993271	missense variant	A/G;T	snv	0.85		1
rs516651	EGLN1	1.000	0.040	1	231406910	intron variant	C/T	snv		0.15	1
rs6533485	EGF	1.000	0.040	4	110006407	intron variant	G/C	snv		0.61	1
rs672961	LRRC7	1.000	0.040	1	70101505	intron variant	C/G	snv		0.99	1
rs7068124	CELF2	1.000	0.040	10	11023453	intron variant	T/C;G	snv			1
rs78142040	ARSD	1.000	0.040	X	2914730	non coding transcript exon variant	C/T	snv			1
rs782230926	HAP1	1.000	0.040	17	41734538	missense variant	G/T	snv	8.4E-06	7.0E-06	1
rs9605146	XKR3	1.000	0.040	22	16784304	missense variant	G/A	snv		0.39	1