DisGeNET - a database of gene-disease associations

List of associated variants

Lesch-Nyhan Syndrome, C0023374

Source: ALL

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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
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs16890979	SLC2A9	0.827	0.200	4	9920543	missense variant	C/T	snv	0.24	0.29	7
rs11231825	SLC22A12	0.827	0.240	11	64592802	synonymous variant	T/C	snv	0.57	0.51	5
rs1556026984	HPRT1	0.925	0.120	X	134475194	missense variant	G/C	snv			4
rs387906725	HPRT1	0.882	0.160	X	134475189	missense variant	G/A	snv			3
rs137852489	HPRT1	0.925	0.160	X	134486471	stop gained	C/A;T	snv	2.4E-05		2
rs137852494	HPRT1	0.925	0.160	X	134475197	stop gained	C/G;T	snv			2
rs137852495	HPRT1	0.925	0.120	X	134475216	missense variant	T/C	snv			2
rs137852497	HPRT1	0.925	0.200	X	134498412	stop gained	C/A;T	snv	4.4E-05		2
rs1556030169	HPRT1	0.925	0.160	X	134498683	frameshift variant	-/T	delins			2
rs369065223	HPRT1	0.925	0.160	X	134486514	stop gained	C/G;T	snv	5.5E-06		2
rs758757727	FHL5	1.000	0.120	6	96605977	missense variant	T/C	snv	8.0E-06	7.0E-06	1
rs1135401801	HPRT1	1.000	0.120	X	134473378	missense variant	G/T	snv			1
rs137852480	HPRT1	1.000	0.120	X	134473453	missense variant	T/C	snv			1
rs137852481	HPRT1	1.000	0.120	X	134475268	missense variant	C/A	snv			1
rs137852483	HPRT1	1.000	0.120	X	134490192	missense variant	T/A	snv			1
rs137852486	HPRT1	1.000	0.120	X	134498670	missense variant	T/G	snv			1
rs137852487	HPRT1	1.000	0.120	X	134475255	missense variant	G/A	snv			1
rs137852488	HPRT1	1.000	0.120	X	134475257	missense variant	G/C	snv			1
rs137852490	HPRT1	1.000	0.120	X	134500030	missense variant	C/G	snv			1
rs137852491	HPRT1	1.000	0.120	X	134473465	missense variant	G/A	snv	4.4E-05		1
rs137852492	HPRT1	1.000	0.120	X	134498433	missense variant	G/T	snv			1
rs137852493	HPRT1	1.000	0.120	X	134498431	missense variant	C/T	snv			1
rs137852496	HPRT1	1.000	0.120	X	134493533	missense variant	T/A	snv			1
rs137852503	HPRT1	1.000	0.120	X	134493524	missense variant	G/A	snv			1