DisGeNET - a database of gene-disease associations

List of associated variants

Developmental regression, C1836830

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
rs727503786	ABCD1	0.827	0.280	X	153736231	missense variant	C/A;G;T	snv	1.6E-05		6
rs1555525115	ANKRD11	0.851	0.360	16	89279567	frameshift variant	GGCTTCGG/-	delins			5
rs869312878	AUTS2	0.882	0.160	7	70766130	frameshift variant	-/C	delins			3
rs397507478	BRAF	0.790	0.440	7	140777014	missense variant	C/A	snv			12
rs1555955296	CDKL5	0.742	0.320	X	18628716	stop gained	C/T	snv			17
rs751486476	CLN6	0.925	0.160	15	68218549	missense variant	C/T	snv	4.0E-06		2
rs377510027	DARS1	0.827	0.240	2	135911447	missense variant	A/G	snv	1.2E-05		6
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
rs1057519437	EBF3	0.851	0.240	10	129957300	missense variant	C/T	snv			6
rs150321966	ECHS1	0.925	0.040	10	133366990	missense variant	G/A	snv	2.6E-04	1.3E-04	3
rs754609693	ECHS1	0.925	0.040	10	133366967	missense variant	G/A	snv	1.6E-05	1.4E-05	3
rs113994063	EIF2B5	0.882	0.160	3	184140517	missense variant	C/G;T	snv	1.6E-05	2.8E-05	5
rs1057521737	EP300	0.827	0.240	22	41173768	missense variant	T/C	snv			11
rs1247665387	FA2H	0.807	0.360	16	74774623	missense variant	C/A	snv		7.0E-06	14
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs878853321	GBA	0.925	0.160	1	155237474	missense variant	C/A;G	snv	4.0E-06		3
rs1568427678	GCDH	0.882	0.160	19	12896243	missense variant	G/C	snv			3
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11
rs281864996	GNPTAB	0.807	0.280	12	101764363	frameshift variant	CTTTT/-;CTTTTCTTTT	delins	2.8E-05	7.0E-06	10
rs112543062	GNPTAB	0.851	0.280	12	101770161	missense variant	T/C;G	snv	1.2E-05		6
rs1060499679	GNPTAB	0.851	0.280	12	101770496	inframe deletion	GTG/-	delins			5
rs546802775	GNPTAB	0.851	0.240	12	101765329	intron variant	TTT/-;TT;TTTT	delins	5.1E-06		5