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
rs4148323	UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A3 ; UGT1A5 ; UGT1A6 ; UGT1A8 ; UGT1A1 ; UGT1A4	0.701	0.440	2	233760498	missense variant	G/A	snv	2.2E-02	9.2E-03	22
rs5030868	G6PD	0.827	0.160	X	154534419	missense variant	G/A	snv	2.6E-03	4.8E-04	9