DisGeNET - a database of gene-disease associations

List of shared variants

Cleft upper lip, C0008924

Disease: Cleft lip or lips

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs10719	DROSHA	0.677	0.680	5	31401340	3 prime UTR variant	A/G;T	snv	0.69		24
rs16260	CDH1	0.716	0.440	16	68737131	upstream gene variant	C/A	snv		0.24	19
rs642961		0.732	0.440	1	209815925	intergenic variant	A/G	snv		0.84	14
rs11362	DEFB1	0.742	0.360	8	6877877	5 prime UTR variant	C/T	snv	0.43	0.40	13
rs2235371	IRF6	0.752	0.360	1	209790735	missense variant	C/T	snv	8.7E-02	3.9E-02	11
rs12532	MSX1	0.790	0.200	4	4863419	3 prime UTR variant	A/G	snv		0.36	10
rs17563	BMP4	0.790	0.320	14	53950804	stop lost	A/G	snv	0.45	0.44	8
rs1546124	CRISPLD2	0.807	0.200	16	84838445	5 prime UTR variant	G/A;C	snv	8.6E-06; 0.67		7
rs2235375	IRF6	0.807	0.400	1	209792242	intron variant	G/A;C;T	snv	3.2E-05; 0.41; 4.3E-04		7
rs397515445	FGFR1	0.807	0.280	8	38414263	missense variant	T/C	snv			7
rs7650466	EPHA3	0.851	0.200	3	89481208	3 prime UTR variant	C/T	snv		0.23	7
rs201002930	WNT10A	0.827	0.200	2	218889997	synonymous variant	C/T	snv	3.2E-05	7.0E-06	6
rs4783099	CRISPLD2	0.827	0.200	16	84907723	3 prime UTR variant	C/T	snv		0.37	6
rs10130587	BMP4	0.851	0.200	14	53952392	intron variant	G/C	snv		0.45	5
rs11466285	TGFA	0.851	0.200	2	70450307	3 prime UTR variant	A/C;G	snv			5
rs1269636220	WDR11	0.851	0.280	10	120865109	missense variant	A/G	snv			5
rs13041247	LOC102724968	0.851	0.200	20	40640434	regulatory region variant	T/C	snv		0.36	5
rs1306416169	NSMF	0.851	0.280	9	137453808	missense variant	C/T	snv			5
rs1487309678	SEMA3A	0.851	0.280	7	84014246	missense variant	C/T	snv	8.0E-06		5
rs2239907	SARM1 ; SLC46A1	0.851	0.200	17	28398728	3 prime UTR variant	T/C	snv		0.53	5
rs2269529	MYH9 ; MIR6819	0.851	0.200	22	36288308	missense variant	T/C	snv	0.26	0.18	5
rs3771523	TGFA	0.851	0.200	2	70450336	3 prime UTR variant	C/T	snv		0.14	5
rs493760	DROSHA	0.851	0.200	5	31436933	intron variant	C/T	snv		0.74	5