DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Tetralogy of Fallot ×

Variants associated to the Gene: GDF1 ×

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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
rs121434424	GDF1 ; CERS1	1.000	0.080	19	18869231	missense variant	C/A;T	snv	2.1E-04		1
rs864622513	GDF1 ; CERS1	1.000	0.080	19	18868791	missense variant	A/G	snv	1.1E-03	1.1E-04	1