DisGeNET - a database of gene-disease associations

List of associated variants

Headache, C0018681

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
rs1563452941	SLC20A2	0.882	0.120	8	42437137	stop gained	C/A	snv			13
rs80359473	BRCA2	0.807	0.400	13	32339288	frameshift variant	GAAA/-	delins			12
rs797045032	CLCN1	0.827	0.280	7	143321720	missense variant	GG/TC	mnv			11
rs11172113	LRP1	0.882	0.080	12	57133500	intron variant	T/C	snv		0.42	10
rs1518111	IL19 ; IL10	0.790	0.360	1	206771300	intron variant	T/C	snv		0.71	9
rs867770797	EDNRA	0.851	0.200	4	147519875	missense variant	G/A	snv			8
rs80358257	NPC1	0.827	0.280	18	23538564	missense variant	G/C	snv	1.2E-04	2.1E-04	8
rs1676486	COL11A1	0.851	0.120	1	102888582	missense variant	A/G;T	snv	0.80; 4.0E-06		7
rs6275	DRD2	0.851	0.160	11	113412755	synonymous variant	A/G	snv	0.64	0.58	7
rs1564691414	FAS	0.925	0.160	10	89007698	splice acceptor variant	A/G	snv			7
rs866445127	NF1	0.851	0.240	17	31352348	stop gained	C/T	snv			7
rs372445155	NPC1	0.851	0.280	18	23554890	missense variant	G/A	snv	1.6E-05	2.1E-05	7
rs344781	PLAUR	0.807	0.200	19	43670636	upstream gene variant	C/T	snv		0.80	7
rs2096525	MIF-AS1 ; MIF	0.827	0.280	22	23894632	non coding transcript exon variant	T/C	snv	0.20	0.20	6
rs1518110	IL10 ; IL19	0.851	0.160	1	206771516	intron variant	A/C;T	snv			5
rs150299874	L2HGDH	1.000	0.120	14	50302901	splice donor variant	C/T	snv	1.2E-05	7.0E-06	5
rs1835740	LOC105375655 ; LOC101927066	0.882	0.040	8	97154685	intergenic variant	T/C	snv		0.75	5
rs768366978	NF1	0.851	0.240	17	31352411	missense variant	C/T	snv	4.0E-06		5
rs2651899	PRDM16 ; LOC105378606	0.882	0.040	1	3167148	intron variant	T/A;C	snv			5
rs12134493		0.925	0.040	1	115135325	TF binding site variant	C/A	snv		9.2E-02	4
rs3761422	ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A	1.000	0.040	22	24430704	intron variant	T/C	snv		0.62	4
rs1050316	MEF2D			1	156464911	3 prime UTR variant	G/T	snv		0.54	3
rs2072806	BTN2A2	1.000	0.040	6	26384865	intron variant	C/G	snv		7.7E-02	2
rs2530223	HDAC3	1.000	0.080	5	141634927	synonymous variant	T/C	snv	0.62	0.68	2
rs4909945	MRVI1			11	10652192	missense variant	T/A;C	snv	0.76		2