DisGeNET - a database of gene-disease associations

List of associated variants

Absent speech, C1854882

Source: CURATED ×

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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
rs1131692228	ACTL6B	0.925	0.160	7	100646637	missense variant	C/T	snv			5
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs587779388	AP4B1 ; AP4B1-AS1	1.000		1	113898755	frameshift variant	GT/-	delins	1.4E-04	1.5E-04	5
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1553770577	NPHP3-ACAD11 ; UBA5	0.724	0.480	3	132675342	missense variant	T/C	snv			37
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		62
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv			11
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1557781252	GATAD2B	0.742	0.320	1	153816414	stop gained	G/A	snv			33
rs61749715	MECP2	0.851	0.120	X	154031154	missense variant	G/A;C	snv			8
rs879253856	ARID1B	0.925	0.240	6	157110496	frameshift variant	CCG/TCCGCAGCCACTCC	delins			6
rs879253747	ARID1B	0.925	0.240	6	157167101	stop gained	C/T	snv			6
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
rs1131692231	CYFIP2	0.827	0.280	5	157294834	missense variant	C/T	snv			13
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1553511224	TBR1	0.882	0.080	2	161423825	frameshift variant	-/C	delins			10
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs879253767	SCN2A	0.882	0.080	2	165313738	frameshift variant	T/-	delins			6
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1555307370	SOX5	0.882	0.160	12	23740986	stop gained	G/A	snv			4
rs794727774	FUCA1	0.827	0.240	1	23848684	stop gained	C/T	snv			11