DisGeNET - a database of gene-disease associations

List of associated variants

Cleft palate with cleft lip, C0158646

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
rs757422353	CDH1	0.882	0.200	16	68823432	missense variant	C/G	snv	4.0E-06		3
rs876658146	CDH1	0.882	0.200	16	68815743	missense variant	A/G	snv			3
rs11696257	LOC102724968	0.882	0.240	20	40642176	regulatory region variant	C/T	snv		0.36	3
rs4791331	NTN1	0.925	0.120	17	9028765	intron variant	C/T	snv		0.53	3
rs3758249	PTCSC2 ; FOXE1	0.882	0.200	9	97851858	intron variant	T/C	snv		0.63	3
rs4460498		0.925	0.120	9	97858130	downstream gene variant	T/C	snv		0.63	2
rs3923086	AXIN2	0.925	0.200	17	65553370	intron variant	A/C;G	snv		0.41	2
rs7224837	AXIN2	0.925	0.200	17	65532005	intron variant	G/A	snv		0.89	2
rs534391501	GRHL3	0.925	0.200	1	24334661	missense variant	G/A	snv	3.1E-04	1.7E-04	2
rs7552506	IRF6	0.925	0.240	1	209796557	splice region variant	G/C	snv	0.32	0.32	2
rs861019	IRF6	0.925	0.120	1	209802041	splice region variant	A/G	snv		0.44	2
rs17820943	LOC102724968	0.925	0.120	20	40639876	regulatory region variant	C/T	snv		0.36	2
rs770182236	NME1-NME2 ; NME1	0.925	0.200	17	51155707	missense variant	G/A	snv	6.4E-05	7.0E-06	2
rs2106416	AMELX ; ARHGAP6	1.000	0.120	X	11298622	missense variant	C/A;T	snv	1.1E-05; 0.19		1
rs1257891978	LOC105378457 ; FGF8	1.000	0.120	10	101770499	missense variant	G/A	snv	4.0E-06	7.0E-06	1
rs772267475	NHLH1	1.000	0.120	1	160370811	missense variant	G/A;C	snv	8.6E-06		1
rs306796	STOM	1.000	0.120	9	121365057	intron variant	C/T	snv		0.33	1
rs368136178	TBX22	1.000	0.120	X	80024158	missense variant	G/A;T	snv	5.5E-06; 8.2E-05		1