DisGeNET - a database of gene-disease associations

List of shared variants

Poor school performance, C1843367

Disease: Microcephaly (physical finding)

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
rs1057518939	VPS13B	1.000	0.040	8	99511424	frameshift variant	A/-	del			9
rs1060499733	DHX30	0.851	0.120	3	47846757	missense variant	A/G	snv			11
rs1060499740	CINP			14	102348559	stop lost	A/C	snv			3
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs1064795945	ASPM	1.000	0.120	1	197102332	frameshift variant	AAGT/-	delins			5
rs1064796738	KIF11	1.000	0.240	10	92606655	stop gained	C/T	snv			5
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs1558519731	BCL11A	0.925		2	60546204	missense variant	C/G	snv			4
rs1563686762	RAD21 ; UTP23	0.790	0.280	8	116847620	inframe deletion	GTT/-	delins			16
rs1564617866	POLR3A	0.925	0.200	10	78000983	missense variant	T/G	snv			7
rs188675529	CENPT ; THAP11	0.827	0.240	16	67842794	missense variant	C/G;T	snv	1.6E-03	6.0E-04	11
rs199422173	ASPM	0.827	0.120	1	197101468	frameshift variant	CT/-	delins	2.3E-04	1.7E-04	7
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		12
rs368313959	OTUD6B	0.851	0.080	8	91078383	stop gained	C/T	snv	1.6E-04	1.0E-04	8
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs369691608	ZNF142 ; BCS1L	1.000	0.160	2	218661255	missense variant	C/T	snv	8.0E-06		5
rs370270828	BRF1	0.882	0.160	14	105241292	missense variant	G/A	snv	8.0E-06	2.8E-05	7
rs372292910	PCDHB4	1.000	0.040	5	141122905	frameshift variant	A/-;AA	delins		1.7E-04	3
rs373957300	BRF1	0.882	0.160	14	105228832	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs386834061	VPS13B	0.925	0.360	8	99868312	stop gained	C/T	snv		2.1E-05	10