DisGeNET - a database of gene-disease associations

List of associated variants

Apraxia, Developmental Verbal, C0750927

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
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	24
rs1131012	PECAM1	0.763	0.280	17	64350416	missense variant	T/C	snv		0.38	10
rs1466535	LRP1	0.790	0.160	12	57140687	intron variant	G/A;C	snv			9
rs563378859	TP53	0.851	0.320	17	7675146	missense variant	G/A	snv	4.0E-06	2.1E-05	8
rs6003	F13B	0.851	0.240	1	197061891	missense variant	C/T	snv	0.88	0.76	5
rs75391579	GALT	0.827	0.280	9	34648170	missense variant	A/G	snv	1.4E-03	1.9E-03	5
rs797045586	FOXP1	0.925	0.120	3	70972666	missense variant	C/T	snv			3
rs121908377	FOXP2	1.000	0.120	7	114662075	missense variant	G/A	snv			3
rs6725189		0.925	0.120	2	20996129	downstream gene variant	G/T	snv		0.19	2
rs121908378	FOXP2	1.000	0.120	7	114642616	stop gained	C/T	snv			2
rs780936436	POT1	0.925	0.240	7	124863547	missense variant	G/A	snv	4.0E-06		2
rs1433722257	FOXP1	1.000	0.120	3	70972170	missense variant	C/A;T	snv	1.6E-05; 8.1E-06		1
rs761606953	FOXP1	1.000	0.120	3	70972053	missense variant	C/T	snv	2.8E-05		1
rs1135401820	FOXP2	1.000	0.120	7	114662188	splice donor variant	T/C	snv			1
rs1178491246	FOXP2	1.000	0.120	7	114658225	stop gained	C/A;T	snv	4.0E-06		1
rs201649896	FOXP2	1.000	0.120	7	114426561	missense variant	A/T	snv	4.3E-04	3.3E-04	1
rs761316361	FOXP2	1.000	0.120	7	114629883	inframe insertion	ACAACAGCAGCA/-;ACAACAGCAGCAACAACAGCAGCA	delins		6.3E-05	1
rs879253772	FOXP2	1.000	0.120	7	114659617	missense variant	T/C	snv			1
rs879253771	FOXP2 ; MIR3666	1.000	0.120	7	114652275	frameshift variant	CA/-	delins			1
rs61745597	ZGRF1	1.000	0.120	4	112623837	missense variant	G/A;C;T	snv	4.1E-06; 1.2E-02		1
rs76187047	ZGRF1	1.000	0.120	4	112585555	missense variant	C/G;T	snv	4.1E-06; 1.3E-02		1