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	AF GENOME	Num. diseases
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1557612048	ARID1A	0.807	0.200	1	26767868	missense variant	T/C	snv			11
rs61751035	RPS6KC1	0.882	0.160	1	213242186	missense variant	G/A	snv	2.4E-05	1.4E-05	6
rs672601368	KIF1A	0.827	0.160	2	240785062	missense variant	C/G;T	snv			10
rs1559307932	PDE6D	0.807	0.360	2	231737190	frameshift variant	-/C	ins			8
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
rs1057519439	DNAH7	1.000	0.120	2	195787135	missense variant	A/G	snv			5
rs797045905	ZRANB3 ; RAB3GAP1	0.851	0.360	2	135164629	stop gained	T/G	snv			5
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		62
rs1553770577	NPHP3-ACAD11 ; UBA5	0.724	0.480	3	132675342	missense variant	T/C	snv			37
rs1172486173	MIR6890 ; QARS1	0.882	0.160	3	49099606	missense variant	T/C	snv	4.0E-06		11
rs185476065	MIR6890 ; QARS1	0.882	0.160	3	49100222	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06		11
rs1114167298	GRM7	0.882	0.120	3	6861849	missense variant	T/C	snv		7.0E-06	5
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
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
rs587784177	NSD1	0.790	0.280	5	177283827	missense variant	G/A	snv			20
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs730882249	AP4M1	0.882	0.120	7	100105981	stop gained	C/T	snv	4.0E-06		6
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv			17
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97