DisGeNET - a database of gene-disease associations

List of shared variants

Poor school performance, C1843367

Disease: Short neck

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
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		43
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			18
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs1569301036	TAF1	0.827	0.240	X	71397354	missense variant	C/T	snv			17