DisGeNET - a database of gene-disease associations

List of associated variants

Hypoplasia of corpus callosum, C0344482

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	Num. diseases
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
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
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv		35
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv		35
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv		34
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins		32
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05	24
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv		24
rs587784177	NSD1	0.790	0.280	5	177283827	missense variant	G/A	snv		20
rs1555454508	SPG11	0.790	0.240	15	44615487	stop gained	GTA/ATC	mnv		18
rs1568269273	NFIX	0.807	0.320	19	13025433	missense variant	G/A	snv		18
rs312262717	SPG11	0.790	0.240	15	44659104	frameshift variant	A/-;AA	delins		18
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins		17
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv		17
rs1057516030	LOC105372797 ; DYRK1A	0.807	0.280	21	37480785	stop gained	-/A	delins		14
rs1555038029	KMT2A	0.776	0.400	11	118477973	stop gained	C/A	snv		12
rs776291104	MED25	0.827	0.240	19	49829816	missense variant	C/T	snv	8.7E-06	12
rs1172486173	MIR6890 ; QARS1	0.882	0.160	3	49099606	missense variant	T/C	snv	4.0E-06	11
rs1557612048	ARID1A	0.807	0.200	1	26767868	missense variant	T/C	snv		11
rs185476065	MIR6890 ; QARS1	0.882	0.160	3	49100222	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06	11
rs1555493029	COG7	0.851	0.240	16	23406263	splice acceptor variant	C/A	snv		10
rs1555497604	COG7	0.851	0.240	16	23452993	start lost	A/G	snv		10