DisGeNET - a database of gene-disease associations

List of associated variants

Cleft palate with cleft lip, C0158646

Source: ALL

Results per page

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
rs7224837	AXIN2	0.925	0.200	17	65532005	intron variant	G/A	snv		0.89	2
rs642961		0.732	0.440	1	209815925	intergenic variant	A/G	snv		0.84	14
rs4752028	SHTN1	0.807	0.200	10	117075480	intron variant	C/T	snv		0.73	6
rs7850258	PTCSC2	0.827	0.200	9	97786731	intron variant	A/G	snv		0.72	6
rs4460498		0.925	0.120	9	97858130	downstream gene variant	T/C	snv		0.63	2
rs3758249	PTCSC2 ; FOXE1	0.882	0.200	9	97851858	intron variant	T/C	snv		0.63	3
rs4791331	NTN1	0.925	0.120	17	9028765	intron variant	C/T	snv		0.53	3
rs6072081	LOC102724968	0.851	0.120	20	40632414	intergenic variant	A/G	snv		0.49	4
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs861019	IRF6	0.925	0.120	1	209802041	splice region variant	A/G	snv		0.44	2
rs3923086	AXIN2	0.925	0.200	17	65553370	intron variant	A/C;G	snv		0.41	2
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs402710	CLPTM1L	0.716	0.320	5	1320607	non coding transcript exon variant	C/T	snv	0.33	0.38	18
rs12532	MSX1	0.790	0.200	4	4863419	3 prime UTR variant	A/G	snv		0.36	10
rs17820943	LOC102724968	0.925	0.120	20	40639876	regulatory region variant	C/T	snv		0.36	2
rs11696257	LOC102724968	0.882	0.240	20	40642176	regulatory region variant	C/T	snv		0.36	3
rs306796	STOM	1.000	0.120	9	121365057	intron variant	C/T	snv		0.33	1
rs7552506	IRF6	0.925	0.240	1	209796557	splice region variant	G/C	snv	0.32	0.32	2
rs522616	MMP3	0.763	0.320	11	102844317	upstream gene variant	T/C	snv		0.23	10
rs7078160	SHTN1	0.851	0.120	10	117068049	intron variant	G/A	snv		0.19	4
rs2235371	IRF6	0.752	0.360	1	209790735	missense variant	C/T	snv	8.7E-02	3.9E-02	11
rs147680216	WNT10A	0.742	0.160	2	218890244	missense variant	G/A	snv	2.1E-03	6.9E-04	11
rs534391501	GRHL3	0.925	0.200	1	24334661	missense variant	G/A	snv	3.1E-04	1.7E-04	2
rs770182236	NME1-NME2 ; NME1	0.925	0.200	17	51155707	missense variant	G/A	snv	6.4E-05	7.0E-06	2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614