DisGeNET - a database of gene-disease associations

List of associated variants

Agenesis of corpus callosum, C0175754

Source: ALL

Results per page

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
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs778139192	KIF7 ; TICRR	0.776	0.360	15	89629561	stop gained	G/A;T	snv	4.1E-06; 7.3E-05		14
rs886041116	ADNP	0.776	0.240	20	50892526	stop gained	G/A	snv			13
rs80338758	MED12	0.790	0.400	X	71127367	missense variant	C/A;T	snv			12
rs750195040	POMT1	0.827	0.160	9	131506164	inframe deletion	CTT/-	delins	3.2E-05	7.0E-06	12
rs568887534	DCTN6	0.807	0.240	8	30183156	missense variant	A/G	snv	4.0E-06		9
rs1057516033	KAT6B	0.807	0.400	10	75025250	splice donor variant	G/A	snv			9
rs1250394819	LOC101927100 ; TMED7-TICAM2 ; TMED7	0.807	0.240	5	115616325	missense variant	C/T	snv	4.0E-06		9
rs1190999960	ZNRD2-AS1 ; ZNRD2 ; FAM89B	0.807	0.240	11	65571690	missense variant	G/A	snv			9
rs431905509	SLC25A1	0.807	0.280	22	19176222	missense variant	G/A;C	snv	2.0E-05		8
rs1064796460	TUBA1A	0.790	0.400	12	49185197	missense variant	C/G;T	snv			8
rs1555696625	NFIX	0.851	0.360	19	13025409	missense variant	G/A	snv			7
rs886039811	B9D1	0.807	0.320	17	19357875	missense variant	A/G	snv	4.0E-06		6
rs1555155556	BORCS5	0.851	0.120	12	12435627	splice acceptor variant	G/T	snv			6
rs121907917	PAX6	0.807	0.240	11	31794079	stop gained	G/A	snv			6
rs148634289	SDHD	0.827	0.200	11	112088925	synonymous variant	C/T	snv	1.6E-05	2.1E-05	6
rs1285675735	SORD	0.827	0.200	15	45043384	synonymous variant	C/G;T	snv	1.1E-05; 1.1E-05		6
rs1057518951	ARID1B	0.827	0.160	6	156829296	stop gained	C/T	snv			5
rs797045277	ARID1B	0.882	0.280	6	157198907	splice region variant	G/A	snv			5
rs1555682265	DCC	0.851	0.160	18	52923796	frameshift variant	TTTCTGG/-	delins			5
rs1569234334	KIF4A	0.851	0.200	X	70329420	missense variant	G/T	snv			5
rs1555380716	SLC12A6	0.882	0.120	15	34255385	frameshift variant	-/C	delins			5
rs1563406024	FZD3	0.851	0.240	8	28555799	frameshift variant	-/A	delins			4
rs797045005	TUBA1A	0.851	0.320	12	49185140	missense variant	A/G	snv			4