DisGeNET - a database of gene-disease associations

List of shared variants

Absent reflex, C0234146

Disease: Gowers sign

Source: ALL

Results per page

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
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del			33