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
rs17010021	LOXL3	0.882	0.200	2	74534412	missense variant	T/A	snv	8.2E-02	4.9E-02	3
rs197204	MCUB	0.851	0.200	4	109576918	intron variant	C/G	snv		0.52	4
rs200203460	CLPB	0.776	0.400	11	72302312	stop gained	G/A;C;T	snv	2.8E-05		9
rs201002930	WNT10A	0.827	0.200	2	218889997	synonymous variant	C/T	snv	3.2E-05	7.0E-06	6
rs2013162	IRF6	0.827	0.280	1	209795339	synonymous variant	C/A;T	snv	0.41; 1.6E-05		5
rs2076056	JARID2	0.882	0.200	6	15487551	intron variant	C/A;G;T	snv	0.24		3
rs2124459	CBS	0.827	0.200	21	43055604	3 prime UTR variant	T/C	snv		0.36	5
rs2166975	TGFA	0.827	0.240	2	70450862	synonymous variant	G/A	snv	0.24	0.23	5
rs2235371	IRF6	0.752	0.360	1	209790735	missense variant	C/T	snv	8.7E-02	3.9E-02	11
rs2235375	IRF6	0.807	0.400	1	209792242	intron variant	G/A;C;T	snv	3.2E-05; 0.41; 4.3E-04		7
rs2237138	JARID2	0.882	0.200	6	15463164	intron variant	T/C	snv		0.22	3
rs2239907	SARM1 ; SLC46A1	0.851	0.200	17	28398728	3 prime UTR variant	T/C	snv		0.53	5
rs2240307	AXIN2	0.882	0.200	17	65558189	synonymous variant	A/G	snv	4.4E-02	4.2E-02	3
rs2269529	MYH9 ; MIR6819	0.851	0.200	22	36288308	missense variant	T/C	snv	0.26	0.18	5
rs227493		0.882	0.200	6	165071698	intron variant	A/T	snv		1.7E-02	3
rs2326398	CRISPLD2	0.827	0.200	16	84869111	intron variant	A/G	snv		0.37	5
rs2486668	GRHL3	0.807	0.320	1	24331573	missense variant	C/G	snv	0.16	0.17	6
rs28937575	FOXE1 ; PTCSC2	0.851	0.280	9	97854084	missense variant	G/A	snv			4
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs3771523	TGFA	0.851	0.200	2	70450336	3 prime UTR variant	C/T	snv		0.14	5
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs3905385	ROR2	0.882	0.200	9	91906451	intron variant	T/C	snv		0.23	3
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs41268753	GRHL3	0.882	0.200	1	24342967	missense variant	C/T	snv	2.3E-02	2.3E-02	3
rs4752028	SHTN1	0.807	0.200	10	117075480	intron variant	C/T	snv		0.73	6