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
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs150726175	NMNAT1	0.776	0.200	1	9982630	missense variant	G/A	snv	7.0E-04	8.5E-04	11
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11
rs1397094538	ZNF436-AS1 ; ZNF436	0.925	0.120	1	23367044	missense variant	A/T	snv	4.0E-06		3
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
rs377510027	DARS1	0.827	0.240	2	135911447	missense variant	A/G	snv	1.2E-05		6
rs113994063	EIF2B5	0.882	0.160	3	184140517	missense variant	C/G;T	snv	1.6E-05	2.8E-05	5
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1380822792	NAA15	0.882	0.080	4	139336933	frameshift variant	CTTGA/-	delins			7
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs387907260	KCTD7	0.776	0.280	7	66633410	missense variant	C/T	snv	4.0E-06	1.4E-05	22
rs796052686	KCTD7	0.776	0.280	7	66638394	missense variant	G/A	snv	1.2E-05		22
rs397507478	BRAF	0.790	0.440	7	140777014	missense variant	C/A	snv			12
rs869312878	AUTS2	0.882	0.160	7	70766130	frameshift variant	-/C	delins			3
rs1224421127	NDUFAF6	1.000	0.040	8	95052198	missense variant	C/G	snv	8.0E-06		1
rs876660634	PTEN	0.807	0.200	10	87925551	missense variant	A/C;G	snv			10
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
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			26
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv			19
rs1057516264	TPP1	0.776	0.280	11	6614968	frameshift variant	C/-;CC	delins			13
rs1554901898	TPP1	0.776	0.280	11	6616858	frameshift variant	A/-	delins			12