DisGeNET - a database of gene-disease associations

List of associated variants

Hypoplasia of corpus callosum, C0344482

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
rs730882249	AP4M1	0.882	0.120	7	100105981	stop gained	C/T	snv	4.0E-06		6
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
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
rs1555038029	KMT2A	0.776	0.400	11	118477973	stop gained	C/A	snv			12
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs1568269273	NFIX	0.807	0.320	19	13025433	missense variant	G/A	snv			18
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		64
rs797045905	ZRANB3 ; RAB3GAP1	0.851	0.360	2	135164629	stop gained	T/G	snv			5
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs587784177	NSD1	0.790	0.280	5	177283827	missense variant	G/A	snv			20
rs1131692230	PDHA1	0.807	0.160	X	19353124	missense variant	A/G	snv			9
rs1057519439	DNAH7	1.000	0.120	2	195787135	missense variant	A/G	snv			5
rs200473652	UNC80	0.807	0.200	2	209819105	missense variant	G/C	snv	1.4E-03	1.6E-03	7
rs886041094	UNC80	0.807	0.200	2	209941379	missense variant	G/A	snv	1.9E-05	2.1E-05	7
rs61751035	RPS6KC1	0.882	0.160	1	213242186	missense variant	G/A	snv	2.4E-05	1.4E-05	6
rs1559307932	PDE6D	0.807	0.360	2	231737190	frameshift variant	-/C	ins			8
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
rs672601368	KIF1A	0.827	0.160	2	240785062	missense variant	C/G;T	snv			10
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34