DisGeNET - a database of gene-disease associations

List of associated variants

Fatigue, C0015672

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs3091244	CRP	0.724	0.280	1	159714875	upstream gene variant	G/A;T	snv			17
rs2794521	CRP	0.742	0.480	1	159715306	upstream gene variant	C/T	snv		0.78	15
rs4129267	IL6R	0.807	0.200	1	154453788	intron variant	C/G;T	snv			13
rs2295633	FAAH	0.827	0.120	1	46408711	intron variant	A/G;T	snv			7
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
rs267606640	AGL	0.882	0.120	1	99913557	stop gained	G/A	snv	5.6E-05	5.6E-05	5
rs3766246	FAAH			1	46399999	intron variant	A/C;G	snv			2
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs4251961	IL1RN	0.763	0.200	2	113116890	intron variant	T/C	snv		0.29	10
rs1553315329	SPAST			2	32116153	stop gained	C/A;T	snv			3
rs1559931177	QRICH1	0.827	0.120	3	49047207	stop gained	G/A	snv			34
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs387907170	ETFDH	0.925	0.080	4	158703436	missense variant	T/C	snv	4.0E-06		3
rs1042718	ADRB2	0.925	0.080	5	148827354	missense variant	C/A;T	snv	0.23; 4.0E-06		3
rs570874680	PRKAA1			5	40764955	missense variant	G/A	snv	7.2E-05	7.0E-06	1
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs869312697	ARID1B	0.882	0.400	6	157207241	stop gained	C/T	snv			8