DisGeNET - a database of gene-disease associations

List of associated variants

Abnormal corpus callosum morphology, C1842581

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
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs77078070	KLHL7	0.742	0.280	7	23165737	stop gained	C/T	snv	1.2E-05	1.4E-05	26
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs1569190079	PDHA1	0.882	0.160	X	19350044	missense variant	G/T	snv			10
rs1057518813	ERCC5 ; BIVM-ERCC5	0.790	0.240	13	102873305	frameshift variant	CT/-	delins			8
rs587776954	RNU7-1 ; C12orf57	0.827	0.320	12	6944122	start lost	A/G	snv	3.2E-05	2.1E-05	6
rs1057518770	SNHG14 ; UBE3A	1.000		15	25354536	missense variant	C/T	snv			6
rs1060499549	ZNF462	0.882	0.120	9	106927699	stop gained	C/T	snv			4