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
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			17
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs387906702	SMC1A	0.807	0.200	X	53403635	missense variant	A/G	snv			16
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-05	13
rs868064163	ACTL6A	1.000	0.040	3	179586552	missense variant	C/T	snv		7.0E-06	13
rs1344172059	ABCC8	0.882	0.080	11	17430838	missense variant	C/T	snv		7.0E-06	12
rs1554781700	COL5A1	0.851	0.240	9	134701287	missense variant	G/T	snv			12
rs1554504663	RHOBTB2	0.851	0.080	8	23007627	missense variant	G/A	snv			11
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
rs1567941252	PCGF2	0.807	0.240	17	38739601	missense variant	G/A	snv			10
rs1057519565	DEAF1	0.851	0.200	11	687941	missense variant	C/T	snv			9
rs140119177	FAM120AOS	0.851	0.160	9	93447639	missense variant	G/A	snv	6.8E-05	2.2E-04	7
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
rs863225422	RNU4ATAC ; CLASP1 ; LOC107985942	0.742	0.440	2	121530927	non coding transcript exon variant	G/A	snv	4.6E-05; 7.7E-06	4.9E-05	23
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15
rs1562150844	PHIP	0.790	0.280	6	78982908	frameshift variant	CTTT/-	delins			14