DisGeNET - a database of gene-disease associations

List of associated variants

Meniere Disease, C0025281

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
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs41279104	NOS1	0.827	0.160	12	117439680	intron variant	C/T	snv		0.11	6
rs2075575	AQP4-AS1 ; AQP4	0.851	0.200	18	26866562	intron variant	G/A	snv		0.31	5
rs3736309	LOC101927318 ; AQP5 ; LOC105369764	0.925	0.120	12	49964271	intron variant	A/G	snv		0.12	2
rs3840634	CAV1	0.925	0.120	7	116556798	intron variant	T/C	snv			2
rs2234688	IFNG-AS1 ; IFNG	1.000	0.040	12	68158742	intron variant	-/G;TGAG;TGG;TGTGG;TGTGTGAG;TGTGTGG;TGTGTGTGG	delins			1
rs487119	SLC8A1	1.000	0.040	2	40261737	intron variant	G/A	snv		0.54	1
rs4947296		0.851	0.440	6	31090401	intergenic variant	T/A;C	snv			5
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
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
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70		32
rs4961	ADD1	0.683	0.400	4	2904980	missense variant	G/A;T	snv	1.2E-05; 0.20		27
rs1805127	KCNE1	0.732	0.240	21	34449523	missense variant	T/C	snv	0.64	2.0E-04	17
rs396991	FCGR3A	0.742	0.480	1	161544752	missense variant	A/C;G;T	snv	0.33; 4.1E-06		14
rs2288904	SLC44A2	0.807	0.240	19	10631494	missense variant	A/G	snv	0.80	0.83	8
rs28357984	ND2 ; COX1	0.851	0.160	MT	5178	missense variant	C/A	snv			6
rs11096955	TLR10	0.851	0.200	4	38774486	missense variant	T/C;G	snv	4.3E-06; 0.41		5