DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Gene: TBX1 ×

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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
rs1978060	TBX1	0.925	0.040	22	19762002	intron variant	A/G	snv		0.64	2
rs2238776	TBX1	1.000	0.080	22	19770369	intron variant	G/A;T	snv			2
rs41297816	TBX1	1.000	0.040	22	19776455	intron variant	A/G	snv		0.28	1