DisGeNET - a database of gene-disease associations

List of associated variants

Long palpebral fissure, C1849340

Source: ALL

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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
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs312262690	ANTXR2	0.752	0.320	4	79984831	frameshift variant	-/G;GG	delins	1.7E-05		28
rs1057516030	LOC105372797 ; DYRK1A	0.807	0.280	21	37480785	stop gained	-/A	delins			14
rs758946412	PCDH19	0.790	0.240	X	100407507	frameshift variant	G/-;GG	delins			12
rs1554496813	KMT2C	0.827	0.160	7	152177839	frameshift variant	-/G	delins			8