DisGeNET - a database of gene-disease associations

List of shared variants

Short stature, C0349588

Disease: Downward slant of palpebral fissure

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
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv			24
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
rs1555154946	ARID2 ; LOC105369745	0.827	0.120	12	45850644	stop gained	C/T	snv			16
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13
rs397507514	PTPN11	0.790	0.240	12	112450408	missense variant	G/C;T	snv			10
rs869312687	RIT1	0.925	0.080	1	155910695	missense variant	T/G	snv			8