DisGeNET - a database of gene-disease associations

List of associated variants

Uranostaphyloschisis, C2981150

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
rs11624283		0.882	0.200	14	105124634	downstream gene variant	A/G	snv		0.13	3
rs16260	CDH1	0.716	0.440	16	68737131	upstream gene variant	C/A	snv		0.24	19
rs522616	MMP3	0.763	0.320	11	102844317	upstream gene variant	T/C	snv		0.23	10
rs8179096	TIMP2	0.851	0.200	17	78925567	upstream gene variant	G/A;C	snv			4
rs1553200431	COL11A1	0.851	0.240	1	102912180	inframe deletion	CCTCACCAGATGGGCCAG/-	delins			8
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs1558027212	TMCO1	0.827	0.320	1	165728096	frameshift variant	GC/-	del			7
rs1553544133	SATB2	0.851	0.200	2	199308845	frameshift variant	TC/-	delins			6
rs1554034812	NIPBL	0.925	0.240	5	37058938	frameshift variant	G/-	delins			3
rs1057518992	NFIA	1.000	0.200	1	61359232	frameshift variant	G/-	delins			2
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs10719	DROSHA	0.677	0.680	5	31401340	3 prime UTR variant	A/G;T	snv	0.69		24
rs12532	MSX1	0.790	0.200	4	4863419	3 prime UTR variant	A/G	snv		0.36	10
rs7650466	EPHA3	0.851	0.200	3	89481208	3 prime UTR variant	C/T	snv		0.23	7
rs4783099	CRISPLD2	0.827	0.200	16	84907723	3 prime UTR variant	C/T	snv		0.37	6
rs11466285	TGFA	0.851	0.200	2	70450307	3 prime UTR variant	A/C;G	snv			5
rs2124459	CBS	0.827	0.200	21	43055604	3 prime UTR variant	T/C	snv		0.36	5
rs2239907	SARM1 ; SLC46A1	0.851	0.200	17	28398728	3 prime UTR variant	T/C	snv		0.53	5
rs3771523	TGFA	0.851	0.200	2	70450336	3 prime UTR variant	C/T	snv		0.14	5
rs739439	SLC46A1 ; SARM1	0.851	0.200	17	28396803	3 prime UTR variant	C/T	snv		0.13	5
rs1546124	CRISPLD2	0.807	0.200	16	84838445	5 prime UTR variant	G/A;C	snv	8.6E-06; 0.67		7
rs201002930	WNT10A	0.827	0.200	2	218889997	synonymous variant	C/T	snv	3.2E-05	7.0E-06	6
rs2013162	IRF6	0.827	0.280	1	209795339	synonymous variant	C/A;T	snv	0.41; 1.6E-05		5
rs2166975	TGFA	0.827	0.240	2	70450862	synonymous variant	G/A	snv	0.24	0.23	5