DisGeNET - a database of gene-disease associations

List of associated variants

Acid reflux, C4317146

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
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-05	13
rs1344172059	ABCC8	0.882	0.080	11	17430838	missense variant	C/T	snv		7.0E-06	12
rs868064163	ACTL6A	1.000	0.040	3	179586552	missense variant	C/T	snv		7.0E-06	13
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			17
rs794727931	ALG8	0.790	0.240	11	78112692	missense variant	A/C	snv			19
rs869312713	ANKRD11	0.882	0.320	16	89280070	stop gained	C/A	snv			6
rs1569324457	ASXL1	0.851	0.280	20	32433481	frameshift variant	AG/-	del			7
rs1563183492	AUTS2	0.708	0.520	7	70766248	missense variant	C/T	snv			32
rs201439531	CHAT	0.827	0.200	10	49664880	missense variant	C/G	snv		7.0E-06	11
rs769234940	CHAT	0.827	0.200	10	49627735	missense variant	C/T	snv	1.6E-05	2.8E-05	11
rs121434341	CHD7	0.807	0.360	8	60855993	missense variant	C/A;T	snv			10
rs559979281	CLASP1 ; RNU4ATAC ; LOC107985942	0.742	0.440	2	121530892	non coding transcript exon variant	C/G;T	snv	7.7E-06; 2.3E-05; 3.5E-04		23
rs1554781700	COL5A1	0.851	0.240	9	134701287	missense variant	G/T	snv			12
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv			19
rs1057519565	DEAF1	0.851	0.200	11	687941	missense variant	C/T	snv			9
rs1178187217	DNAH11	0.683	0.480	7	21600085	missense variant	G/A;T	snv	4.3E-06		38
rs201943194	DNAH11	0.683	0.480	7	21710596	stop gained	C/T	snv	8.5E-05	8.4E-05	38
rs140119177	FAM120AOS	0.851	0.160	9	93447639	missense variant	G/A	snv	6.8E-05	2.2E-04	7
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs1557781252	GATAD2B	0.742	0.320	1	153816414	stop gained	G/A	snv			33
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17