DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Seizures

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
rs797044523	LOC105372797 ; DYRK1A	0.882		21	37480756	frameshift variant	-/A	delins			9
rs886041125	ANKRD11	0.807	0.440	16	89284635	frameshift variant	GTTTT/-	delins		7.0E-06	12
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1057518770	SNHG14 ; UBE3A	1.000		15	25354536	missense variant	C/T	snv			6
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs1057518921	MED12	1.000		X	71132465	missense variant	G/A	snv			7
rs1057518932	EFTUD2	1.000		17	44855003	missense variant	T/A	snv			2
rs1057518961	DYNC1H1	0.925	0.040	14	102012450	missense variant	C/T	snv			5
rs1057519443	MPP4	0.882	0.200	2	201675255	missense variant	A/G	snv			7
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv			19
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv			19
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1085308040	PTEN	0.851	0.200	10	87961096	missense variant	G/A;T	snv			6
rs1114167290	MYO5A	0.882	0.080	15	52340235	missense variant	G/C	snv			5
rs1114167297	KIF5B	0.851	0.160	10	32019912	missense variant	T/C	snv			5
rs1114167298	GRM7	0.882	0.120	3	6861849	missense variant	T/C	snv		7.0E-06	5
rs1114167300	GRM7	0.925	0.040	3	7578878	missense variant	C/T	snv			6
rs1114167301	GRM7	0.925	0.040	3	7578930	missense variant	C/A;T	snv	4.0E-06		6
rs1131692230	PDHA1	0.807	0.160	X	19353124	missense variant	A/G	snv			9
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			9
rs1135402725	PDHX	0.851	0.120	11	34995002	stop gained	C/T	snv	1.2E-05		6
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs113994094	POLG	0.827	0.080	15	89330184	missense variant	G/A	snv	1.5E-03	1.6E-03	6