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
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
rs1224421127	NDUFAF6	1.000	0.040	8	95052198	missense variant	C/G	snv	8.0E-06		1
rs1380822792	NAA15	0.882	0.080	4	139336933	frameshift variant	CTTGA/-	delins			7
rs1566785990	IRF2BPL ; LOC107984638	0.851	0.120	14	77026534	missense variant	A/G	snv			12
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11
rs61749715	MECP2	0.851	0.120	X	154031154	missense variant	G/A;C	snv			8
rs1397094538	ZNF436-AS1 ; ZNF436	0.925	0.120	1	23367044	missense variant	A/T	snv	4.0E-06		3
rs61748411	MECP2	0.925	0.120	X	154031356	missense variant	T/C	snv			3
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			26
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs387906309	HEXA	0.925	0.160	15	72346579	frameshift variant	-/GATA	delins	4.0E-06; 8.0E-04	4.5E-04	10
rs121907966	HEXA	0.882	0.160	15	72345477	missense variant	G/A	snv	4.0E-06	1.4E-05	9
rs1057519464	HEXA	0.925	0.160	15	72347711	missense variant	T/C;G	snv	4.0E-06		7
rs1057519465	HEXA	0.925	0.160	15	72346598	stop gained	C/T	snv	4.0E-06		7
rs1057519466	HEXA	0.925	0.160	15	72346307	frameshift variant	G/-	del			7
rs121907978	HEXA	0.925	0.160	15	72346296	missense variant	C/G;T	snv			7
rs121908681	PLA2G6	0.851	0.160	22	38120867	missense variant	T/C;G	snv	2.4E-05		7
rs773446161	HEXA	0.925	0.160	15	72356555	stop gained	G/A	snv	4.0E-06		7
rs1057519468	HEXA	0.925	0.160	15	72345518	stop gained	C/T	snv	4.0E-06		6
rs121907972	HEXA	0.925	0.160	15	72353130	missense variant	G/A	snv	8.0E-06	1.4E-05	6
rs786204585	HEXA	0.925	0.160	15	72344139	stop gained	G/A	snv		7.0E-06	6
rs1057519467	HEXA	0.925	0.160	15	72345540	missense variant	C/T	snv			5
rs113994063	EIF2B5	0.882	0.160	3	184140517	missense variant	C/G;T	snv	1.6E-05	2.8E-05	5