DisGeNET - a database of gene-disease associations

List of shared variants

Growth delay, C0456070

Disease: Strabismus

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
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs869312824	GNB1	0.827	0.200	1	1804565	missense variant	A/G	snv			14
rs869312823	GNB1	0.882	0.080	1	1806509	missense variant	T/C	snv			9