DisGeNET - a database of gene-disease associations

List of shared variants

Poor school performance, C1843367

Disease: Microcephaly (physical finding)

Source: CLINVAR ×

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
rs1060499740	CINP			14	102348559	stop lost	A/C	snv			3
rs606231450	BRF1	0.882	0.160	14	105226674	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		7
rs373957300	BRF1	0.882	0.160	14	105228832	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs606231416	BRF1	0.882	0.160	14	105241282	missense variant	G/A	snv	8.1E-06		7
rs370270828	BRF1	0.882	0.160	14	105241292	missense variant	G/A	snv	8.0E-06	2.8E-05	7
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs1563686762	RAD21 ; UTP23	0.790	0.280	8	116847620	inframe deletion	GTT/-	delins			16
rs864309676	STX7	0.851	0.120	6	132472372	missense variant	T/G	snv			7
rs372292910	PCDHB4	1.000	0.040	5	141122905	frameshift variant	A/-;AA	delins		1.7E-04	3
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		24
rs782596945	ATP2B3	0.851	0.120	X	153580229	missense variant	G/A;T	snv	5.5E-06		8
rs61751362	MECP2	0.790	0.160	X	154030948	stop gained	G/A;C	snv	1.6E-05		8
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		12
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs199422173	ASPM	0.827	0.120	1	197101468	frameshift variant	CT/-	delins	2.3E-04	1.7E-04	7
rs1064795945	ASPM	1.000	0.120	1	197102332	frameshift variant	AAGT/-	delins			5
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs369691608	ZNF142 ; BCS1L	1.000	0.160	2	218661255	missense variant	C/T	snv	8.0E-06		5
rs886040857	EIF2S3	0.882	0.240	X	24076757	frameshift variant	TCAA/-	delins			7
rs672601369	KIF1A	0.790	0.120	2	240783780	missense variant	C/T	snv			10
rs672601367	KIF1A	0.851	0.080	2	240785066	missense variant	T/G	snv			7
rs672601366	KIF1A	0.851	0.120	2	240786339	missense variant	C/G	snv			6
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs797044519	DYRK1A	0.925		21	37478285	stop gained	C/A;G;T	snv			9