DisGeNET - a database of gene-disease associations

List of associated variants

Dysmorphic facies, C0424503

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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
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
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv			24
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		24
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		19
rs797045412	BICD2	0.776	0.280	9	92718565	missense variant	G/A;T	snv			17
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs201431517	MTFMT	0.827	0.200	15	65021533	missense variant	G/A	snv	3.5E-04	5.7E-04	17
rs1014959895	PRMT7	0.763	0.360	16	68329105	stop gained	G/C;T	snv	4.0E-06; 1.6E-05		16
rs483352822	RIT1	0.776	0.360	1	155904470	stop lost	C/A;G;T	snv			16
rs1554196416	IRAK1BP1 ; PHIP	0.851	0.200	6	78958551	stop gained	G/A	snv			15
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs1251713297	PRMT7	0.776	0.360	16	68355785	stop gained	C/A	snv	8.1E-06		15
rs181109321	TTPA	0.776	0.320	8	63065904	splice region variant	C/A;T	snv	2.0E-05		15
rs886041936	HDAC8	0.827	0.120	X	72495210	stop gained	G/A	snv			14
rs267607093	SRD5A3	0.851	0.160	4	55359444	stop gained	G/A	snv	4.0E-06		14
rs142110773	FIGNL1 ; DDC	0.882	0.160	7	50463317	missense variant	G/A	snv	1.6E-05	7.0E-06	13
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13