DisGeNET - a database of gene-disease associations

List of shared variants

Broad-based gait, C0856863

Disease: Poor school performance

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs724159949	LOC105372797 ; DYRK1A	0.827	0.240	21	37486563	stop gained	C/T	snv			15
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
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