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
rs869025317	UNC80	0.925	0.160	2	209959707	missense variant	G/C	snv			4
rs150681845	INTU	1.000	0.080	4	127687772	missense variant	G/A	snv	2.6E-03	1.8E-03	2
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs863223330	SIX1 ; MIR9718	0.807	0.280	14	60648629	splice donor variant	C/G	snv			8
rs1057518781	MCOLN1	0.925	0.120	19	7527961	splice donor variant	G/A;C	snv			7
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
rs796051881	PEX5	0.807	0.440	12	7202274	frameshift variant	-/A	delins			9
rs587779388	AP4B1 ; AP4B1-AS1	1.000		1	113898755	frameshift variant	GT/-	delins	1.4E-04	1.5E-04	5
rs1057518817	NPR2	1.000	0.080	9	35805944	frameshift variant	GTGGTCCTTTC/-	del			4
rs869025318	UNC80	0.925	0.160	2	209820379	frameshift variant	A/-	delins			4
rs1426488816	PLAA	0.827	0.160	9	26913948	splice acceptor variant	C/T	snv	8.0E-06		9
rs748379243	ERCC8	0.882	0.200	5	60928961	splice acceptor variant	T/A;C	snv	4.0E-06	7.0E-06	6
rs897535441	ERCC8	0.925	0.160	5	60887521	splice acceptor variant	C/G;T	snv			5
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del			33