DisGeNET - a database of gene-disease associations

List of associated variants

Absent speech, C1854882

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 GENOME	Num. diseases
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins		87
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv		67
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv		58
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv		57
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv		54
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv		53
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv		53
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins		51
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv		46
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins		44
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv		38
rs1553770577	NPHP3-ACAD11 ; UBA5	0.724	0.480	3	132675342	missense variant	T/C	snv		37
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv		37
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv	7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv		34
rs1057524820	SCN8A	0.776	0.280	12	51765746	missense variant	G/A;T	snv		33
rs1557781252	GATAD2B	0.742	0.320	1	153816414	stop gained	G/A	snv		33
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv		19
rs387906846	ARID1A	0.807	0.280	1	26773716	stop gained	C/G;T	snv		19
rs879253753	ANKRD11	0.851	0.280	16	89280526	frameshift variant	-/T	delins		19
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv		18
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins		17
rs1564421528	WAC	0.882	0.080	10	28614666	stop gained	C/T	snv		16
rs1057518848	TCF4	0.827	0.240	18	55229003	frameshift variant	-/ATTG	delins		15
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv		15