DisGeNET - a database of gene-disease associations

List of associated variants

Adrenoleukodystrophy, C0162309

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs6721961	NFE2L2	0.672	0.520	2	177265309	intron variant	T/C;G	snv		0.89	24
rs1223231582	PRSS1	0.677	0.280	7	142750639	missense variant	A/G	snv		7.0E-06	24
rs1557055405	ABCD1	0.807	0.400	X	153743532	missense variant	T/A	snv			21
rs2108622	CYP4F2	0.742	0.280	19	15879621	missense variant	C/T	snv	0.27	0.22	20
rs72613567	HSD17B13	0.742	0.320	4	87310240	splice donor variant	-/A	delins	0.22		14
rs2228603	NCAN	0.790	0.360	19	19219115	missense variant	C/A;T	snv	2.8E-05; 5.9E-02		12
rs35652124	NFE2L2	0.790	0.320	2	177265345	intron variant	T/C	snv		0.29	8
rs111966833	SPINK1	0.776	0.320	5	147828053	missense variant	G/A;C	snv	4.5E-03		8
rs727503786	ABCD1	0.827	0.280	X	153736231	missense variant	C/A;G;T	snv	1.6E-05		6
rs1557055311	ABCD1	0.882	0.200	X	153743220	splice acceptor variant	G/A;C	snv			5
rs1569540688	ABCD1 ; BCAP31	0.925	0.240	X	153725586	missense variant	T/C	snv			4
rs398123108	ABCD1	0.925	0.200	X	153743211	intron variant	G/A;T	snv			3
rs3741559	AQP2 ; LOC101927318	1.000	0.160	12	49951193	splice region variant	G/A	snv	0.20	0.17	3
rs774062108	LOC105377347 ; NFKB1	0.925	0.240	4	102607651	splice region variant	T/G	snv	4.0E-06		3