DisGeNET - a database of gene-disease associations

List of associated variants

Growth delay, C0456070

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
rs863223330	SIX1 ; MIR9718	0.807	0.280	14	60648629	splice donor variant	C/G	snv			8
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs1557781252	GATAD2B	0.742	0.320	1	153816414	stop gained	G/A	snv			33
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs869312697	ARID1B	0.882	0.400	6	157207241	stop gained	C/T	snv			8
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs796051881	PEX5	0.807	0.440	12	7202274	frameshift variant	-/A	delins			9
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del			33
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			45