DisGeNET - a database of gene-disease associations

List of associated variants

Short philtrum, C1861324

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
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs1565679039	COL2A1	0.701	0.400	12	47983399	stop gained	T/A	snv			45
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs1554121443	SYNGAP1 ; MIR5004	0.742	0.280	6	33438873	stop gained	C/T	snv			29
rs1294950721	JAG1	0.807	0.360	20	10645355	splice donor variant	C/A;T	snv		7.0E-06	27
rs759191907	LOC105379841 ; ENG	0.776	0.360	9	127825225	splice region variant	A/G	snv	8.0E-06		25
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs879253753	ANKRD11	0.851	0.280	16	89280526	frameshift variant	-/T	delins			19
rs1555955296	CDKL5	0.742	0.320	X	18628716	stop gained	C/T	snv			17
rs1554196416	IRAK1BP1 ; PHIP	0.851	0.200	6	78958551	stop gained	G/A	snv			15
rs386834055	VPS13B	0.925	0.320	8	99853469	frameshift variant	-/A	delins			9
rs1307997067	TAX1BP3 ; P2RX5-TAX1BP3	0.851	0.320	17	3664199	missense variant	A/C;G	snv	4.0E-06	7.0E-06	7
rs1561964103	TFAP2B	0.882	0.080	6	50836108	frameshift variant	G/-	delins			7
rs587779351	XRCC4	0.851	0.200	5	83105046	missense variant	T/C	snv	1.6E-05		6