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
rs727503786	ABCD1	0.827	0.280	X	153736231	missense variant	C/A;G;T	snv	1.6E-05		6
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs863225045	ALDH18A1	0.790	0.360	10	95637327	missense variant	C/A;T	snv			15
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
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
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv			17
rs559979281	CLASP1 ; RNU4ATAC ; LOC107985942	0.742	0.440	2	121530892	non coding transcript exon variant	C/G;T	snv	7.7E-06; 2.3E-05; 3.5E-04		23
rs953686324	CLCNKB	0.851	0.160	1	16044506	frameshift variant	-/G	delins	4.3E-06	5.6E-05	7
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs1555493029	COG7	0.851	0.240	16	23406263	splice acceptor variant	C/A	snv			10
rs1555497604	COG7	0.851	0.240	16	23452993	start lost	A/G	snv			10
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
rs377510027	DARS1	0.827	0.240	2	135911447	missense variant	A/G	snv	1.2E-05		6
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
rs137853027	DYNC2H1	0.827	0.120	11	103220720	missense variant	A/G	snv	2.4E-04	2.6E-04	15
rs1057518898	DYNC2H1			11	103256241	splice donor variant	G/A;C	snv	4.4E-06		3
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
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
rs797044525	DYRK1A ; LOC105372797	0.925		21	37490244	missense variant	T/G	snv			9