DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Gene: COL1A1 ×

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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
rs3840870	COL1A1			17	50184820	3 prime UTR variant	-/CTTG	delins			13
rs2075555	COL1A1	0.807	0.240	17	50196930	intron variant	T/A;G	snv			1