DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA ×

Variants associated to the Gene: ALOX15P1 ×

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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
rs587777578	ALOX15P1 ; C17orf100 ; SLC13A5	1.000		17	6687641	missense variant	A/G	snv			1
rs863225448	C17orf100 ; ALOX15P1 ; SLC13A5	1.000		17	6687534	missense variant	C/G	snv			1
rs548065551	C17orf100 ; SLC13A5 ; ALOX15P1	1.000		17	6690936	missense variant	G/A	snv	4.1E-06	7.0E-06	1
rs863225447	C17orf100 ; SLC13A5 ; ALOX15P1	1.000		17	6693101	frameshift variant	-/ACTTTCTCCTG	delins			1
rs1057519449	SLC13A5 ; ALOX15P1 ; C17orf100	1.000		17	6687629	missense variant	A/G	snv			1