DisGeNET - a database of gene-disease associations

List of associated variants

Developmental regression, C1836830

Source: INFERRED ×

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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
rs869312878	AUTS2	0.882	0.160	7	70766130	frameshift variant	-/C	delins			3
rs387906309	HEXA	0.925	0.160	15	72346579	frameshift variant	-/GATA	delins	4.0E-06; 8.0E-04	4.5E-04	10
rs1554901898	TPP1	0.776	0.280	11	6616858	frameshift variant	A/-	delins			12
rs1057516945	TPP1	0.925	0.160	11	6616973	splice donor variant	A/C	snv			2
rs876660634	PTEN	0.807	0.200	10	87925551	missense variant	A/C;G	snv			10
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv			19
rs148881970	NAGLU	0.724	0.360	17	42543840	missense variant	A/G	snv	5.4E-05	1.3E-04	22
rs1566785990	IRF2BPL ; LOC107984638	0.851	0.120	14	77026534	missense variant	A/G	snv			12
rs138504221	SGSH	0.807	0.280	17	80212128	missense variant	A/G	snv	9.6E-05	1.5E-04	9
rs377510027	DARS1	0.827	0.240	2	135911447	missense variant	A/G	snv	1.2E-05		6
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs1057516264	TPP1	0.776	0.280	11	6614968	frameshift variant	C/-;CC	delins			13
rs1247665387	FA2H	0.807	0.360	16	74774623	missense variant	C/A	snv		7.0E-06	14
rs397507478	BRAF	0.790	0.440	7	140777014	missense variant	C/A	snv			12
rs878853321	GBA	0.925	0.160	1	155237474	missense variant	C/A;G	snv	4.0E-06		3
rs727503786	ABCD1	0.827	0.280	X	153736231	missense variant	C/A;G;T	snv	1.6E-05		6
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs762374961	HEXA	0.925	0.160	15	72346235	stop gained	C/A;T	snv			4
rs1224421127	NDUFAF6	1.000	0.040	8	95052198	missense variant	C/G	snv	8.0E-06		1
rs121907978	HEXA	0.925	0.160	15	72346296	missense variant	C/G;T	snv			7
rs370266293	HEXA	0.925	0.160	15	72346679	missense variant	C/G;T	snv	1.0E-04		5
rs113994063	EIF2B5	0.882	0.160	3	184140517	missense variant	C/G;T	snv	1.6E-05	2.8E-05	4
rs748190164	HEXA	0.925	0.160	15	72356531	missense variant	C/G;T	snv	4.0E-06		4