DisGeNET - a database of gene-disease associations

Disease: Joint laxity

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
rs1202430946	IGHMBP2	0.827	0.080	11	68930251	non coding transcript exon variant	C/A;T	snv		1.4E-05	17