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
rs150726175	NMNAT1	0.776	0.200	1	9982630	missense variant	G/A	snv	7.0E-04	8.5E-04	11
rs1224421127	NDUFAF6	1.000	0.040	8	95052198	missense variant	C/G	snv	8.0E-06		1
rs1555525115	ANKRD11	0.851	0.360	16	89279567	frameshift variant	GGCTTCGG/-	delins			5
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs876660634	PTEN	0.807	0.200	10	87925551	missense variant	A/C;G	snv			10
rs529855742	SGSH	0.827	0.320	17	80214291	missense variant	G/A	snv	1.2E-05	1.4E-05	15
rs138504221	SGSH	0.807	0.280	17	80212128	missense variant	A/G	snv	9.6E-05	1.5E-04	9
rs752914124	SGSH	0.827	0.280	17	80210679	stop gained	GGAGGTCCTTG/-	del			8
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
rs1566785990	IRF2BPL ; LOC107984638	0.851	0.120	14	77026534	missense variant	A/G	snv			12
rs1247665387	FA2H	0.807	0.360	16	74774623	missense variant	C/A	snv		7.0E-06	14
rs773446161	HEXA	0.925	0.160	15	72356555	stop gained	G/A	snv	4.0E-06		7
rs748190164	HEXA	0.925	0.160	15	72356531	missense variant	C/G;T	snv	4.0E-06		4
rs121907972	HEXA	0.925	0.160	15	72353130	missense variant	G/A	snv	8.0E-06	1.4E-05	6
rs1057519463	HEXA	0.882	0.240	15	72349160	frameshift variant	GAACTCAT/-	delins			6
rs1057519464	HEXA	0.925	0.160	15	72347711	missense variant	T/C;G	snv	4.0E-06		7
rs370266293	HEXA	0.925	0.160	15	72346679	missense variant	C/G;T	snv	1.0E-04		5
rs1057519465	HEXA	0.925	0.160	15	72346598	stop gained	C/T	snv	4.0E-06		7
rs387906309	HEXA	0.925	0.160	15	72346579	frameshift variant	-/GATA	delins	4.0E-06; 8.0E-04	4.5E-04	10
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
rs762374961	HEXA	0.925	0.160	15	72346235	stop gained	C/A;T	snv			4
rs1057519467	HEXA	0.925	0.160	15	72345540	missense variant	C/T	snv			5