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
rs797044523	LOC105372797 ; DYRK1A	0.882		21	37480756	frameshift variant	-/A	delins			9
rs1327062642	TULP1	0.827	0.200	6	35509903	frameshift variant	-/G	delins	4.0E-06		11
rs953686324	CLCNKB	0.851	0.160	1	16044506	frameshift variant	-/G	delins	4.3E-06	5.6E-05	7
rs1567721991	PRMT7	0.882	0.080	16	68347257	frameshift variant	-/GCTCTCCG	delins			9
rs1562203136	PHIP	0.882	0.120	6	79042902	frameshift variant	-/T	ins			9
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs797044521	LOC105372797 ; DYRK1A	0.925		21	37480768	frameshift variant	A/-	delins			8
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv			11
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs137853027	DYNC2H1	0.827	0.120	11	103220720	missense variant	A/G	snv	2.4E-04	2.6E-04	15
rs1555497604	COG7	0.851	0.240	16	23452993	start lost	A/G	snv			10
rs377510027	DARS1	0.827	0.240	2	135911447	missense variant	A/G	snv	1.2E-05		6
rs864309486	GMNN	0.763	0.320	6	24777262	stop gained	A/T	snv			21
rs797044524	LOC105372797 ; DYRK1A	0.925		21	37486513	missense variant	A/T	snv			9
rs1567690011	PRMT7	0.882	0.080	16	68337496	frameshift variant	AG/-	delins			9
rs797044522	DYRK1A	0.925		21	37496119	frameshift variant	AGAT/-	delins			9
rs1555564126	EFTUD2	0.882	0.320	17	44853306	frameshift variant	C/-	delins			9
rs1555493029	COG7	0.851	0.240	16	23406263	splice acceptor variant	C/A	snv			10
rs138659167	DHCR7	0.807	0.320	11	71435840	splice acceptor variant	C/A;G	snv	5.6E-05; 3.9E-03		20
rs797044519	DYRK1A	0.925		21	37478285	stop gained	C/A;G;T	snv			9
rs727503786	ABCD1	0.827	0.280	X	153736231	missense variant	C/A;G;T	snv	1.6E-05		6
rs863225045	ALDH18A1	0.790	0.360	10	95637327	missense variant	C/A;T	snv			15
rs1334099693	SOX4	0.882	0.080	6	21594732	missense variant	C/A;T	snv	4.6E-06		11
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31