DisGeNET - a database of gene-disease associations

List of shared variants

Downward slant of palpebral fissure, C0423110

Disease: Byzanthine arch palate

Source: ALL

Results per page

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
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs77078070	KLHL7	0.742	0.280	7	23165737	stop gained	C/T	snv	1.2E-05	1.4E-05	26
rs121918494	FGFR2	0.790	0.160	10	121517363	missense variant	G/C	snv			25
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
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13