DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Gene: TBC1D5 ×

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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
rs6808523	SATB1 ; TBC1D5	0.882	0.080	3	18430796	intron variant	A/G	snv		8.0E-02	4
rs6577641	TBC1D5 ; SATB1	1.000	0.080	3	18356357	intron variant	C/A;G;T	snv			1