DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Infantile encephalopathy ×

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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
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		62
rs1553770577	NPHP3-ACAD11 ; UBA5	0.724	0.480	3	132675342	missense variant	T/C	snv			37
rs1057519566	MDH2	0.851	0.160	7	76063579	missense variant	C/T	snv			7
rs375002796	MDH2	0.851	0.160	7	76058047	missense variant	C/T	snv	5.2E-05	2.8E-05	7
rs796053353	STXBP1	0.882	0.120	9	127661192	missense variant	C/T	snv			6
rs879253748	GABRA1	0.882	0.040	5	161897251	frameshift variant	C/-	del			5
rs1057519567	MDH2	0.882	0.040	7	76063554	frameshift variant	G/-	delins			5
rs1195505218	SLC25A22	0.925	0.040	11	792142	missense variant	C/T	snv	4.1E-06		4
rs1565035177	SLC25A22	0.925	0.040	11	792146	frameshift variant	CA/-	delins			4