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
rs1057516030	LOC105372797 ; DYRK1A	0.807	0.280	21	37480785	stop gained	-/A	delins			14
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs1559307932	PDE6D	0.807	0.360	2	231737190	frameshift variant	-/C	ins			8
rs312262717	SPG11	0.790	0.240	15	44659104	frameshift variant	A/-;AA	delins			18
rs1555497604	COG7	0.851	0.240	16	23452993	start lost	A/G	snv			10
rs1131692230	PDHA1	0.807	0.160	X	19353124	missense variant	A/G	snv			9
rs1057518963	OPHN1	0.851	0.200	X	68210239	missense variant	A/G	snv			6
rs1057519439	DNAH7	1.000	0.120	2	195787135	missense variant	A/G	snv			5
rs1223073957	MED25	0.827	0.240	19	49835897	frameshift variant	C/-	delins	1.2E-05	1.4E-05	12
rs1114167295	MAGED2	0.827	0.160	X	54812169	frameshift variant	C/-	del			6
rs1555038029	KMT2A	0.776	0.400	11	118477973	stop gained	C/A	snv			12
rs1555493029	COG7	0.851	0.240	16	23406263	splice acceptor variant	C/A	snv			10
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs1114167296	TMEM47	0.827	0.160	X	34656995	missense variant	C/G	snv			6
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs672601368	KIF1A	0.827	0.160	2	240785062	missense variant	C/G;T	snv			10
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv			24
rs776291104	MED25	0.827	0.240	19	49829816	missense variant	C/T	snv	8.7E-06		12
rs730882249	AP4M1	0.882	0.120	7	100105981	stop gained	C/T	snv	4.0E-06		6
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1057518934	HERC2	0.851	0.240	15	28211095	frameshift variant	G/-	delins			8