DisGeNET - a database of gene-disease associations

List of shared variants

Microcephaly (physical finding), C4551563

Disease: Sunken eyes

Source: CLINVAR ×

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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
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs724159949	LOC105372797 ; DYRK1A	0.827	0.240	21	37486563	stop gained	C/T	snv			15
rs113993993	SBDS	0.851	0.040	7	66994210	splice donor variant	A/C;G	snv	4.0E-06; 3.9E-03		9
rs1557024919	HUWE1	0.925	0.240	X	53634235	splice donor variant	C/G	snv			7
rs724159948	DYRK1A ; LOC105372797	1.000		21	37490273	stop gained	C/T	snv			7
rs724159953	DYRK1A	1.000		21	37505352	stop gained	C/T	snv			7
rs120074160	SBDS	0.925		7	66994286	stop gained	T/A	snv	1.7E-04	1.0E-03	6
rs724159950	DYRK1A ; LOC105372797	1.000	0.200	21	37486571	frameshift variant	TGAG/GAA	delins			6
rs724159951	DYRK1A			21	37493101	missense variant	T/C	snv			6
rs724159952	LOC105372797 ; DYRK1A			21	37490451	frameshift variant	-/G	delins			6
rs724159954	DYRK1A ; LOC105372797			21	37490353	frameshift variant	-/A	delins			6
rs724159955	DYRK1A	1.000		21	37512002	missense variant	C/A	snv			6
rs724159956	DYRK1A			21	37496249	frameshift variant	-/G	delins			6
rs748379243	ERCC8	0.882	0.200	5	60928961	splice acceptor variant	T/A;C	snv	4.0E-06	7.0E-06	6
rs897535441	ERCC8	0.925	0.160	5	60887521	splice acceptor variant	C/G;T	snv			5