DisGeNET - a database of gene-disease associations

List of associated variants

Gilbert Disease (disorder), C0017551

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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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
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
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
rs386656364	UGT1A10 ; UGT1A8 ; UGT1A9 ; UGT1A7	0.807	0.160	2	233682328	missense variant	CG/AA	mnv			8
rs879625015	UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8	0.807	0.160	2	233682328	frameshift variant	CG/A	delins			8
rs4124874	UGT1A5 ; UGT1A4 ; UGT1A7 ; LOC100286922 ; UGT1A8 ; UGT1A10 ; UGT1A3 ; UGT1A6 ; UGT1A9	0.851	0.120	2	233757013	intron variant	T/A;G	snv			8
rs771314938	UGT1A9 ; UGT1A10 ; UGT1A8 ; UGT1A7	0.807	0.160	2	233682328	frameshift variant	CG/-	del			8
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
rs4148326	UGT1A5 ; UGT1A9 ; UGT1A6 ; UGT1A8 ; UGT1A10 ; UGT1A4 ; UGT1A3 ; UGT1A1 ; UGT1A7	0.925	0.080	2	233764816	intron variant	T/C	snv		0.49	5
rs774010631	UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A4 ; UGT1A9 ; UGT1A10 ; UGT1A5	0.827	0.160	2	233719115	missense variant	G/C	snv	2.4E-05	2.1E-05	5
rs368362776	UGT1A10 ; UGT1A9 ; UGT1A6 ; UGT1A7 ; UGT1A8	0.882	0.120	2	233693633	missense variant	C/G;T	snv	4.0E-06		3
rs281865418	UGT1A5 ; UGT1A6 ; UGT1A3 ; UGT1A9 ; UGT1A1 ; UGT1A7 ; UGT1A8 ; UGT1A10 ; UGT1A4	0.882	0.080	2	233761127	stop gained	C/A;G	snv			3
rs55750087	UGT1A9 ; UGT1A6 ; UGT1A5 ; UGT1A10 ; UGT1A7 ; UGT1A4 ; UGT1A8 ; UGT1A3 ; UGT1A1	0.882	0.120	2	233768234	missense variant	C/G;T	snv	2.0E-05		3
rs137852334	G6PD	0.925	0.120	X	154532695	missense variant	G/A	snv			2
rs766577643	NT5C3A	0.925	0.120	7	33024078	missense variant	T/C;G	snv	8.0E-06		2
rs549391527	UGT1A3 ; UGT1A7 ; UGT1A5 ; UGT1A6 ; UGT1A9 ; UGT1A10 ; UGT1A1 ; UGT1A8 ; UGT1A4	0.925	0.080	2	233767903	missense variant	C/G;T	snv	4.0E-06		2
rs56059937	UGT1A3 ; UGT1A7 ; UGT1A5 ; UGT1A8 ; UGT1A9 ; UGT1A4 ; UGT1A6 ; UGT1A1 ; UGT1A10	0.925	0.080	2	233760534	missense variant	T/A;C	snv	8.0E-06		2
rs72551349	UGT1A6 ; UGT1A5 ; UGT1A3 ; UGT1A9 ; UGT1A1 ; UGT1A4 ; UGT1A7 ; UGT1A8 ; UGT1A10	0.925	0.080	2	233767873	stop gained	C/G;T	snv	4.0E-06; 2.8E-05		2
rs17868323	UGT1A7 ; UGT1A10 ; UGT1A9 ; UGT1A8	0.925	0.160	2	233682324	missense variant	T/A;G	snv	0.59		2
rs72551347	UGT1A8 ; UGT1A1 ; UGT1A10 ; UGT1A4 ; UGT1A6 ; UGT1A7 ; UGT1A5 ; UGT1A9 ; UGT1A3	0.925	0.080	2	233767050	missense variant	T/C	snv			2
rs35350960	UGT1A9 ; UGT1A3 ; UGT1A4 ; UGT1A6 ; UGT1A7 ; UGT1A5 ; UGT1A1 ; UGT1A8 ; UGT1A10	0.925	0.080	2	233760973	missense variant	C/A;T	snv	1.5E-03; 4.4E-05		2
rs387906470	G6PD	1.000	0.080	X	154532785	missense variant	G/A	snv			1
rs1406437385	LOC108783645 ; HFE	1.000	0.080	6	26092942	missense variant	C/T	snv	4.0E-06		1