DisGeNET - a database of gene-disease associations

List of shared variants

Dysmorphic features, C0432072

Disease: Poor school performance

Source: INFERRED ×

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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
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs387906702	SMC1A	0.807	0.200	X	53403635	missense variant	A/G	snv			16
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs1064797103	OTUD6B	0.827	0.280	8	91078597	missense variant	A/G	snv			9
rs797044523	LOC105372797 ; DYRK1A	0.882		21	37480756	frameshift variant	-/A	delins			9
rs368313959	OTUD6B	0.851	0.080	8	91078383	stop gained	C/T	snv	1.6E-04	1.0E-04	8
rs606231193	PQBP1	0.925	0.080	X	48902391	frameshift variant	AGAG/-;AG;AGAGAG	delins			6
rs61751444	MECP2	0.882	0.080	X	154030903	missense variant	G/A	snv			4