DisGeNET - a database of gene-disease associations

List of shared variants

Short stature, C0349588

Disease: Poor school performance

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		24
rs527656756	MTA3 ; HAAO	0.716	0.400	2	42770143	frameshift variant	-/A	delins	1.7E-05	1.4E-05	21
rs879253753	ANKRD11	0.851	0.280	16	89280526	frameshift variant	-/T	delins			19
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			17
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs724159949	LOC105372797 ; DYRK1A	0.827	0.240	21	37486563	stop gained	C/T	snv			15
rs188675529	CENPT ; THAP11	0.827	0.240	16	67842794	missense variant	C/G;T	snv	1.6E-03	6.0E-04	11
rs386834061	VPS13B	0.925	0.360	8	99868312	stop gained	C/T	snv		2.1E-05	10
rs1057518939	VPS13B	1.000	0.040	8	99511424	frameshift variant	A/-	del			9
rs753242774	MIR1226 ; DHX30	0.882	0.120	3	47848237	missense variant	C/A;T	snv			9
rs797044519	DYRK1A	0.925		21	37478285	stop gained	C/A;G;T	snv			9
rs797044522	DYRK1A	0.925		21	37496119	frameshift variant	AGAT/-	delins			9
rs797044523	LOC105372797 ; DYRK1A	0.882		21	37480756	frameshift variant	-/A	delins			9
rs797044524	LOC105372797 ; DYRK1A	0.925		21	37486513	missense variant	A/T	snv			9
rs797044525	DYRK1A ; LOC105372797	0.925		21	37490244	missense variant	T/G	snv			9
rs797044521	LOC105372797 ; DYRK1A	0.925		21	37480768	frameshift variant	A/-	delins			8
rs1057518799	POGZ	0.925	0.080	1	151430715	frameshift variant	-/GATTGGCA	delins			7
rs1556165162	HDAC8	0.882	0.120	X	72572657	frameshift variant	GG/-	delins			7