DisGeNET - a database of gene-disease associations

List of associated variants

Cleft Palate, C0008925

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
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
rs1546124	CRISPLD2	0.807	0.200	16	84838445	5 prime UTR variant	G/A;C	snv	8.6E-06; 0.67		7
rs2006771	SFI1	0.925	0.120	22	31602626	missense variant	G/A	snv	0.41	0.44	2
rs2235375	IRF6	0.807	0.400	1	209792242	intron variant	G/A;C;T	snv	3.2E-05; 0.41; 4.3E-04		7
rs2013162	IRF6	0.827	0.280	1	209795339	synonymous variant	C/A;T	snv	0.41; 1.6E-05		5
rs6126344	SALL4	0.925	0.120	20	51790963	missense variant	A/C;T	snv	0.35; 8.0E-06		2
rs957448	VIRMA	0.925	0.120	8	94529074	synonymous variant	A/G;T	snv	0.33		2
rs545809	GRHL3 ; STPG1	0.882	0.200	1	24364274	missense variant	T/A	snv	0.29	0.26	3
rs2269529	MYH9 ; MIR6819	0.851	0.200	22	36288308	missense variant	T/C	snv	0.26	0.18	5
rs2076056	JARID2	0.882	0.200	6	15487551	intron variant	C/A;G;T	snv	0.24		3
rs2166975	TGFA	0.827	0.240	2	70450862	synonymous variant	G/A	snv	0.24	0.23	5
rs2486668	GRHL3	0.807	0.320	1	24331573	missense variant	C/G	snv	0.16	0.17	6
rs3746101	MKNK2	0.925	0.120	19	2050824	missense variant	G/T	snv	2.8E-05; 9.5E-02	7.1E-02	2
rs2235371	IRF6	0.752	0.360	1	209790735	missense variant	C/T	snv	8.7E-02	3.9E-02	11
rs17010021	LOXL3	0.882	0.200	2	74534412	missense variant	T/A	snv	8.2E-02	4.9E-02	3
rs2240307	AXIN2	0.882	0.200	17	65558189	synonymous variant	A/G	snv	4.4E-02	4.2E-02	3
rs41268753	GRHL3	0.882	0.200	1	24342967	missense variant	C/T	snv	2.3E-02	2.3E-02	3
rs146753226	SIX2	0.882	0.200	2	45006255	missense variant	C/T	snv	1.1E-04	4.0E-04	3
rs140291094	STAC3	0.742	0.320	12	57244322	missense variant	C/G	snv	9.1E-05	3.8E-04	11
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41
rs201002930	WNT10A	0.827	0.200	2	218889997	synonymous variant	C/T	snv	3.2E-05	7.0E-06	6
rs1332974507	GREM1	0.925	0.120	15	32731180	missense variant	C/T	snv	4.0E-06	7.0E-06	2
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