DisGeNET - a database of gene-disease associations

List of shared variants

Short stature, C0349588

Disease: Intrauterine retardation

Source: CLINVAR ×

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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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			27
rs724159949	LOC105372797 ; DYRK1A	0.827	0.240	21	37486563	stop gained	C/T	snv			15
rs1561875767	CUL7 ; KLC4	1.000	0.200	6	43041036	stop gained	G/A	snv			14
rs1561892336	CUL7 ; KLC4	0.807	0.200	6	43050050	stop gained	C/T	snv			13
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
rs797044523	LOC105372797 ; DYRK1A	0.882		21	37480756	frameshift variant	-/A	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
rs797044521	LOC105372797 ; DYRK1A	0.925		21	37480768	frameshift variant	A/-	delins			8