DisGeNET - a database of gene-disease associations

List of associated variants

Intrauterine retardation, C1386048

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
rs797044521	LOC105372797 ; DYRK1A	0.925		21	37480768	frameshift variant	A/-	delins			8
rs797044524	LOC105372797 ; DYRK1A	0.925		21	37486513	missense variant	A/T	snv			9
rs724159949	LOC105372797 ; DYRK1A	0.827	0.240	21	37486563	stop gained	C/T	snv			15
rs797044525	DYRK1A ; LOC105372797	0.925		21	37490244	missense variant	T/G	snv			9
rs797044522	DYRK1A	0.925		21	37496119	frameshift variant	AGAT/-	delins			9
rs1559470315	CTNNB1	0.732	0.320	3	41227287	protein altering variant	CCACAAGCAG/T	delins			26
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
rs1555564126	EFTUD2	0.882	0.320	17	44853306	frameshift variant	C/-	delins			9
rs550423482	PNPO	0.882	0.160	17	47946670	missense variant	G/A;T	snv	4.0E-05		6
rs1559931177	QRICH1	0.827	0.120	3	49047207	stop gained	G/A	snv			34
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			28
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv			17
rs912001256	SCN4A	0.851	0.240	17	63947062	stop gained	G/A	snv			17
rs121908557	SCN4A ; LOC105371858	0.752	0.280	17	63957514	missense variant	C/T	snv	8.2E-06	1.4E-05	23
rs1567690011	PRMT7	0.882	0.080	16	68337496	frameshift variant	AG/-	delins			9
rs1567721991	PRMT7	0.882	0.080	16	68347257	frameshift variant	-/GCTCTCCG	delins			9
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs138659167	DHCR7	0.807	0.320	11	71435840	splice acceptor variant	C/A;G	snv	5.6E-05; 3.9E-03		20
rs1032242817	DHCR7	0.807	0.320	11	71441307	stop gained	C/T	snv	8.0E-06	7.0E-06	17
rs886041936	HDAC8	0.827	0.120	X	72495210	stop gained	G/A	snv			14
rs886039469	KCNMA1-AS1 ; KCNMA1	0.701	0.560	10	76891709	missense variant	T/C	snv			35