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
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
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
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
rs863225422	RNU4ATAC ; CLASP1 ; LOC107985942	0.742	0.440	2	121530927	non coding transcript exon variant	G/A	snv	4.6E-05; 7.7E-06	4.9E-05	23
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs750195040	POMT1	0.827	0.160	9	131506164	inframe deletion	CTT/-	delins	3.2E-05	7.0E-06	12
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv			11
rs377510027	DARS1	0.827	0.240	2	135911447	missense variant	A/G	snv	1.2E-05		6
rs727503786	ABCD1	0.827	0.280	X	153736231	missense variant	C/A;G;T	snv	1.6E-05		6
rs953686324	CLCNKB	0.851	0.160	1	16044506	frameshift variant	-/G	delins	4.3E-06	5.6E-05	7
rs1559810905	IFIH1	0.827	0.240	2	162273810	missense variant	T/A	snv			9
rs1334099693	SOX4	0.882	0.080	6	21594732	missense variant	C/A;T	snv	4.6E-06		11
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs864309486	GMNN	0.763	0.320	6	24777262	stop gained	A/T	snv			21
rs864309487	GMNN	0.763	0.280	6	24777279	frameshift variant	TCAA/-	delins			20
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs1327062642	TULP1	0.827	0.200	6	35509903	frameshift variant	-/G	delins	4.0E-06		11
rs1057518944	NIPBL	0.807	0.280	5	36984990	frameshift variant	CT/-	delins			9
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
rs797044523	LOC105372797 ; DYRK1A	0.882		21	37480756	frameshift variant	-/A	delins			9