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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs529855742	SGSH	0.827	0.320	17	80214291	missense variant	G/A	snv	1.2E-05	1.4E-05	15
rs1114167298	GRM7	0.882	0.120	3	6861849	missense variant	T/C	snv		7.0E-06	5
rs1057518963	OPHN1	0.851	0.200	X	68210239	missense variant	A/G	snv			6
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv			17
rs1114167295	MAGED2	0.827	0.160	X	54812169	frameshift variant	C/-	del			6
rs1223073957	MED25	0.827	0.240	19	49835897	frameshift variant	C/-	delins	1.2E-05	1.4E-05	12
rs776291104	MED25	0.827	0.240	19	49829816	missense variant	C/T	snv	8.7E-06		12
rs185476065	MIR6890 ; QARS1	0.882	0.160	3	49100222	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06		11
rs1172486173	MIR6890 ; QARS1	0.882	0.160	3	49099606	missense variant	T/C	snv	4.0E-06		11
rs387907329	WDR45 ; PRAF2	0.827	0.200	X	49075573	stop gained	G/A;T	snv	5.5E-06		10
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs312262717	SPG11	0.790	0.240	15	44659104	frameshift variant	A/-;AA	delins			18
rs1555454508	SPG11	0.790	0.240	15	44615487	stop gained	GTA/ATC	mnv			18
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv			24
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs1057516030	LOC105372797 ; DYRK1A	0.807	0.280	21	37480785	stop gained	-/A	delins			14
rs746800707	AAR2	0.851	0.160	20	36240388	missense variant	G/A;C;T	snv	1.2E-05; 4.0E-06		8
rs1114167296	TMEM47	0.827	0.160	X	34656995	missense variant	C/G	snv			6
rs1114167297	KIF5B	0.851	0.160	10	32019912	missense variant	T/C	snv			5
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs1057518934	HERC2	0.851	0.240	15	28211095	frameshift variant	G/-	delins			8
rs1557612048	ARID1A	0.807	0.200	1	26767868	missense variant	T/C	snv			11
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34