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
rs1294950721	JAG1	0.807	0.360	20	10645355	splice donor variant	C/A;T	snv		7.0E-06	27
rs138065384	TTR	0.925	0.040	18	31593016	missense variant	T/C	snv	4.4E-05	1.9E-04	3