DisGeNET - a database of gene-disease associations

List of associated variants

Absent speech, C1854882

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
rs1064795760	BICD2	0.882	0.080	9	92719007	inframe deletion	ATT/-	del			14
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs879253753	ANKRD11	0.851	0.280	16	89280526	frameshift variant	-/T	delins			19
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1057518848	TCF4	0.827	0.240	18	55229003	frameshift variant	-/ATTG	delins			15
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs1553511224	TBR1	0.882	0.080	2	161423825	frameshift variant	-/C	delins			10
rs879253745	ARID1B	0.925	0.240	6	157181040	frameshift variant	AA/-	delins			6
rs879253746	ARID1B	0.925	0.240	6	157200866	frameshift variant	-/T	delins			6
rs879253767	SCN2A	0.882	0.080	2	165313738	frameshift variant	T/-	delins			6
rs879253856	ARID1B	0.925	0.240	6	157110496	frameshift variant	CCG/TCCGCAGCCACTCC	delins			6
rs587779388	AP4B1 ; AP4B1-AS1	1.000		1	113898755	frameshift variant	GT/-	delins	1.4E-04	1.5E-04	5
rs1057518796	SYNGAP1	1.000		6	33443751	frameshift variant	C/-	delins			3
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs1557024919	HUWE1	0.925	0.240	X	53634235	splice donor variant	C/G	snv			7
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		62
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