DisGeNET - a database of gene-disease associations

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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
rs28936670	NKX2-5	0.708	0.280	5	173235011	missense variant	G/A	snv	3.4E-03	1.1E-02	17
rs2277923	NKX2-5	0.752	0.160	5	173235021	synonymous variant	T/C	snv	0.41	0.44	13