DisGeNET - a database of gene-disease associations

List of shared variants

Micrognathism, C0025990

Disease: Orbital separation excessive

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
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs121918487	FGFR2	0.716	0.440	10	121517378	missense variant	C/A;G;T	snv			25
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs794727931	ALG8	0.790	0.240	11	78112692	missense variant	A/C	snv			19
rs875989803	DDX3X	0.827	0.200	X	41343249	stop gained	G/T	snv			15
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14
rs61752129	PEX26	0.776	0.240	22	18078405	frameshift variant	C/-;CC	delins			14