DisGeNET - a database of gene-disease associations

List of associated variants

Fatigue, C0015672

Source: CURATED ×

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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
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	46
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	34
rs1559931177	QRICH1	0.827	0.120	3	49047207	stop gained	G/A	snv			34
rs1331463984	TRAF7	0.701	0.240	16	2176350	missense variant	G/A	snv			33
rs151344517	LOC107985154 ; AFG3L2 ; TUBB6	0.742	0.320	18	12337505	missense variant	C/T	snv			31
rs864321670	ALDH18A1	0.763	0.320	10	95633012	missense variant	C/T	snv			24
rs181109321	TTPA	0.776	0.320	8	63065904	splice region variant	C/A;T	snv	2.0E-05		15
rs1057523354	COL4A1	0.763	0.480	13	110179387	missense variant	C/A	snv			13
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	12
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		12
rs4129267	IL6R	0.807	0.200	1	154453788	intron variant	C/G;T	snv			12
rs869312697	ARID1B	0.882	0.400	6	157207241	stop gained	C/T	snv			8
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	8
rs139194636	WARS2	0.882	0.240	1	119033203	missense variant	T/C	snv	6.4E-05	2.3E-04	6
rs757600616	WARS2	0.882	0.240	1	119033279	stop gained	G/A	snv	1.2E-05		6
rs1555889984	RUNX1	0.925	0.120	21	34834536	stop gained	C/A	snv			5
rs1555366607	SPTB	1.000	0.080	14	64767787	missense variant	A/G	snv			5
rs1057518925	COL6A2	1.000	0.120	21	46114006	splice acceptor variant	A/G	snv			4
rs551423795	MUSK	0.925	0.080	9	110687218	missense variant	A/G	snv	2.4E-05	1.4E-05	4
rs756877019	MUSK	1.000		9	110800760	missense variant	G/C	snv	4.0E-06		3
rs1553315329	SPAST			2	32116153	stop gained	C/A;T	snv			3
rs267606640	AGL	0.882	0.120	1	99913557	stop gained	G/A	snv	5.6E-05	5.6E-05	2