DisGeNET - a database of gene-disease associations

List of associated variants

Migraine with Aura, C0154723

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1799971	OPRM1	0.559	0.600	6	154039662	missense variant	A/G	snv	0.19	0.12	95
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs6318	HTR2C ; LOC105373313	0.623	0.520	X	114731326	missense variant	C/G;T	snv			42
rs909253	LTA ; LOC100287329	0.641	0.600	6	31572536	intron variant	A/G;T	snv			34
rs745738344	TNF	0.653	0.600	6	31576786	synonymous variant	G/A	snv	1.6E-05	1.4E-05	28
rs1006737	CACNA1C	0.695	0.120	12	2236129	intron variant	G/A	snv		0.36	27
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs1568523935	SLC25A42	0.776	0.240	19	19105656	stop gained	C/G	snv			20
rs9349379	PHACTR1	0.732	0.200	6	12903725	intron variant	A/G	snv		0.32	19
rs1202989817	SOD1 ; LOC102724449	0.716	0.360	21	31659813	missense variant	T/C;G	snv	8.0E-06	7.0E-06	18
rs1202430946	IGHMBP2	0.827	0.080	11	68930251	non coding transcript exon variant	C/A;T	snv		1.4E-05	17
rs10994336	ANK3	0.776	0.160	10	60420054	intron variant	C/T	snv		7.5E-02	12
rs12273363	BDNF	0.807	0.120	11	27723312	intron variant	T/C	snv		0.16	11
rs11172113	LRP1	0.882	0.080	12	57133500	intron variant	T/C	snv		0.42	10
rs2066713	SLC6A4	0.807	0.200	17	30224647	intron variant	G/A	snv		0.34	9
rs2049046	BDNF	0.827	0.200	11	27702228	intron variant	T/A	snv		0.48	6
rs121908211	CACNA1A	0.882	0.080	19	13371744	missense variant	C/T	snv			5
rs104894561	CSNK1D	0.882	0.120	17	82265743	missense variant	T/C	snv	4.0E-06	7.0E-06	5
rs1835740	LOC105375655 ; LOC101927066	0.882	0.040	8	97154685	intergenic variant	T/C	snv		0.75	5
rs2651899	PRDM16 ; LOC105378606	0.882	0.040	1	3167148	intron variant	T/A;C	snv			5