DisGeNET - a database of gene-disease associations

List of associated variants

Congenital hypoplasia of lung, C0265783

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
rs771237928	NOTCH2	0.752	0.280	1	119915813	frameshift variant	G/-;GG	delins			14
rs138119149	AARS2 ; TMEM151B	0.807	0.280	6	44304512	missense variant	G/A	snv	2.1E-04	2.4E-04	11
rs1057518944	NIPBL	0.807	0.280	5	36984990	frameshift variant	CT/-	delins			9
rs587777589	AARS2	0.851	0.280	6	44311095	frameshift variant	-/C	delins			7
rs1565308384	TMEM258 ; MYRF	0.827	0.200	11	61784321	frameshift variant	-/A	delins			5
rs1553856553	TP63	0.925	0.200	3	189864391	missense variant	C/T	snv			3