DisGeNET - a database of gene-disease associations

List of associated variants

Leukodystrophy, C0023520

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
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs1057523354	COL4A1	0.763	0.480	13	110179387	missense variant	C/A	snv			13
rs776679653	ISCA1	0.827	0.200	9	86266174	missense variant	C/T	snv	4.2E-06		11
rs1561904557	CSF1R	0.851	0.160	5	150056050	missense variant	GGAT/TGCC	mnv			9
rs727503786	ABCD1	0.827	0.280	X	153736231	missense variant	C/A;G;T	snv	1.6E-05		6
rs377510027	DARS1	0.827	0.240	2	135911447	missense variant	A/G	snv	1.2E-05		6
rs121908345	MLC1	0.827	0.240	22	50080391	missense variant	G/A	snv	1.3E-04	6.3E-05	6
rs202101384	SDHB	0.851	0.160	1	17044818	missense variant	T/A	snv	4.4E-05	1.4E-05	6
rs765061840	SPG11	0.882	0.120	15	44633619	stop gained	G/A	snv	1.2E-05	7.0E-06	6
rs777476179	ALMS1	0.851	0.280	2	73448259	frameshift variant	A/-	del		1.4E-05	5
rs113994063	EIF2B5	0.882	0.160	3	184140517	missense variant	C/G;T	snv	1.6E-05	2.8E-05	5
rs1364050643	REEP1	0.851	0.240	2	86232711	missense variant	G/A	snv			5
rs371334506	SPG11	0.882	0.120	15	44565954	missense variant	A/C;G	snv	4.0E-06		5
rs74315475	ARSA	0.851	0.120	22	50626033	missense variant	T/A	snv	3.4E-05	6.3E-05	4
rs769235753	SLC17A5	0.925	0.120	6	73644582	missense variant	C/T	snv	1.2E-05	2.1E-05	4
rs151266052	SDHA	0.925	0.120	5	240448	missense variant	C/T	snv	6.0E-04	2.4E-03	3
rs397514541	SDHA	0.925	0.120	5	240451	missense variant	C/G;T	snv	4.0E-06		3
rs1554988032	ACER3	0.925	0.120	11	76861074	missense variant	A/G	snv			2
rs1555384318	GALC	0.925	0.120	14	87992971	missense variant	C/T	snv			2
rs267608670	POLR3A	0.925	0.240	10	78007761	missense variant	C/T	snv	2.0E-05	1.4E-05	2
rs730882248	RNF216 ; MIR6874	0.925	0.160	7	5711761	splice region variant	C/T	snv			2
rs759670932	AARS2 ; TMEM151B	1.000	0.120	6	44307324	missense variant	C/T	snv	2.0E-05	2.8E-05	1
rs761953453	AIFM1 ; RAB33A	1.000	0.120	X	130130094	missense variant	G/A	snv	5.5E-06	9.5E-06	1
rs768180196	DEGS1	1.000	0.120	1	224190258	missense variant	A/G	snv	5.7E-05	7.0E-06	1