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
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs281864996	GNPTAB	0.807	0.280	12	101764363	frameshift variant	CTTTT/-;CTTTTCTTTT	delins	2.8E-05	7.0E-06	10
rs546802775	GNPTAB	0.851	0.240	12	101765329	intron variant	TTT/-;TT;TTTT	delins	5.1E-06		5
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
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1568427678	GCDH	0.882	0.160	19	12896243	missense variant	G/C	snv			3
rs1057519437	EBF3	0.851	0.240	10	129957300	missense variant	C/T	snv			6
rs754609693	ECHS1	0.925	0.040	10	133366967	missense variant	G/A	snv	1.6E-05	1.4E-05	3
rs150321966	ECHS1	0.925	0.040	10	133366990	missense variant	G/A	snv	2.6E-04	1.3E-04	3
rs377510027	DARS1	0.827	0.240	2	135911447	missense variant	A/G	snv	1.2E-05		6
rs1380822792	NAA15	0.882	0.080	4	139336933	frameshift variant	CTTGA/-	delins			7
rs397507478	BRAF	0.790	0.440	7	140777014	missense variant	C/A	snv			12
rs727503786	ABCD1	0.827	0.280	X	153736231	missense variant	C/A;G;T	snv	1.6E-05		6
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs61749715	MECP2	0.851	0.120	X	154031154	missense variant	G/A;C	snv			8
rs61748421	MECP2	0.807	0.200	X	154031326	stop gained	G/A;T	snv			9
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			46
rs61748411	MECP2	0.925	0.120	X	154031356	missense variant	T/C	snv			3
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			30
rs878853321	GBA	0.925	0.160	1	155237474	missense variant	C/A;G	snv	4.0E-06		3
rs587777446	IFIH1	0.807	0.200	2	162273913	missense variant	C/T	snv	4.0E-06		11
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			26
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11