DisGeNET - a database of gene-disease associations

List of associated variants

Bilateral talipes equinovarus, C1837835

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
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del			33
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs1057518871	COL5A1	0.925	0.120	9	134798410	frameshift variant	C/-	delins			10
rs1553630457	TGFBR2	0.882	0.240	3	30674231	missense variant	T/C	snv			8
rs1553354952	WDR26	0.882	0.200	1	224404492	missense variant	C/T	snv			4
rs1553354956	WDR26	0.882	0.200	1	224404504	missense variant	A/C	snv			4