DisGeNET - a database of gene-disease associations

List of associated variants

Atopy, C0392707

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
rs886039799	BBS9	0.763	0.320	7	33273896	frameshift variant	C/-	del			17
rs2501618	CEP350	1.000	0.080	1	179989674	intron variant	T/C	snv		0.81	2
rs13273924				8	33269481	intergenic variant	T/G	snv		0.45	1
rs7835920				8	58396173	intergenic variant	T/G	snv		0.31	1
rs7843085				8	33258026	intergenic variant	G/A;C;T	snv			1
rs9292961				5	20940020	downstream gene variant	G/A	snv		0.58	1
rs7835153	ANKRD46			8	100561592	upstream gene variant	A/G	snv		0.35	1
rs7629719	COL6A5			3	130441090	intron variant	G/T	snv		0.89	1
rs6561505	FNDC3A			13	49179593	intron variant	G/A	snv		5.9E-02	1
rs9376221	MAP3K5			6	136671241	intron variant	T/C	snv		0.15	1
rs2330183	SLC19A1			21	45533378	intron variant	C/T	snv		0.51	1