DisGeNET - a database of gene-disease associations

List of associated variants

Cleft palate, isolated, C1837218

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
rs10130587	BMP4	0.851	0.200	14	53952392	intron variant	G/C	snv		0.45	5
rs104893810	TGFBR2	0.790	0.360	3	30691477	missense variant	C/T	snv			7
rs104894110	FOXE1 ; PTCSC2	0.776	0.280	9	97854108	missense variant	C/T	snv			8
rs1057516039	KMT2D	0.882	0.280	12	49029400	splice donor variant	C/T	snv			5
rs1057519583	STN1	0.882	0.160	10	103900115	missense variant	C/G	snv			3
rs10719	DROSHA	0.677	0.680	5	31401340	3 prime UTR variant	A/G;T	snv	0.69		24
rs1139	ZNF385B	0.851	0.200	2	179745354	intron variant	C/T	snv		0.22	4
rs11466285	TGFA	0.851	0.200	2	70450307	3 prime UTR variant	A/C;G	snv			5
rs11624283		0.882	0.200	14	105124634	downstream gene variant	A/G	snv		0.13	3
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121909574	TFAP2A-AS2 ; TFAP2A	0.724	0.400	6	10404509	missense variant	T/A;C;G	snv	4.6E-06		17
rs12532	MSX1	0.790	0.200	4	4863419	3 prime UTR variant	A/G	snv		0.36	10
rs13041247	LOC102724968	0.851	0.200	20	40640434	regulatory region variant	T/C	snv		0.36	5
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs140291094	STAC3	0.742	0.320	12	57244322	missense variant	C/G	snv	9.1E-05	3.8E-04	11
rs144078282	CLPB	0.776	0.400	11	72302339	missense variant	T/A;C	snv	1.8E-04; 2.0E-04		9
rs146753226	SIX2	0.882	0.200	2	45006255	missense variant	C/T	snv	1.1E-04	4.0E-04	3
rs1474322770	NKX2-1 ; NKX2-1-AS1 ; SFTA3	0.827	0.240	14	36519251	missense variant	G/A	snv			5
rs1546124	CRISPLD2	0.807	0.200	16	84838445	5 prime UTR variant	G/A;C	snv	8.6E-06; 0.67		7
rs1553547838	SATB2	0.925	0.280	2	199328709	stop gained	G/A	snv			4
rs1554496813	KMT2C	0.827	0.160	7	152177839	frameshift variant	-/G	delins			8
rs1555564126	EFTUD2	0.882	0.320	17	44853306	frameshift variant	C/-	delins			9
rs1556914274	HUWE1	0.790	0.440	X	53537626	missense variant	G/A	snv			13
rs1565679039	COL2A1	0.701	0.400	12	47983399	stop gained	T/A	snv			45
rs16260	CDH1	0.716	0.440	16	68737131	upstream gene variant	C/A	snv		0.24	19