DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Congenital Abnormality ×

Variants associated to the Gene: TBX5 ×

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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
rs104894378	TBX5	0.882	0.120	12	114385521	missense variant	C/G;T	snv			4
rs104894381	TBX5	0.925	0.120	12	114401830	missense variant	C/T	snv			4