DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Prolapsed lumbar disc ×

Variants associated to the Gene: COL11A1 ×

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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
rs1676486	COL11A1	0.851	0.120	1	102888582	missense variant	A/G;T	snv	0.80; 4.0E-06		7
rs2615977	COL11A1	0.925	0.080	1	102986836	intron variant	A/C	snv		0.27	3