DisGeNET - a database of gene-disease associations

List of shared variants

Lhermitte-Duclos disease, C0391826

Disease: Intervertebral disc disorder

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
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
rs7975232	VDR	0.576	0.760	12	47845054	intron variant	C/A	snv	0.51	0.55	56
rs143383	GDF5	0.724	0.320	20	35438203	5 prime UTR variant	G/A	snv		0.47	17
rs61734651	COL9A3	0.882	0.280	20	62819980	missense variant	C/T	snv	4.7E-02	4.5E-02	6
rs1254394380	COL11A1	0.882	0.160	1	102888618	stop gained	G/A	snv			4