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
rs8175347	UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4	0.708	0.400	2	233760234	intron variant	TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA	delins			16
rs6742078	UGT1A3 ; UGT1A7 ; UGT1A8 ; UGT1A10 ; UGT1A6 ; UGT1A4 ; UGT1A9 ; UGT1A1 ; UGT1A5	0.807	0.240	2	233763993	intron variant	G/T	snv		0.36	13