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
rs34993780	UGT1A10 ; MROH2A ; UGT1A7 ; UGT1A5 ; UGT1A6 ; UGT1A1 ; UGT1A9 ; UGT1A8 ; UGT1A3 ; UGT1A4	0.827	0.120	2	233772413	missense variant	T/A;C;G	snv	2.2E-04		7
rs34946978	UGT1A3 ; UGT1A4 ; UGT1A9 ; UGT1A5 ; UGT1A7 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8	0.851	0.120	2	233768226	missense variant	C/G;T	snv	1.2E-03		6