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
rs121909635	FGFR1	0.827	0.240	8	38426158	missense variant	C/T	snv			6
rs267606805	FGFR1	0.851	0.240	8	38414173	missense variant	G/T	snv			5
rs267606806	FGFR1	0.851	0.240	8	38414166	missense variant	G/A;C	snv	1.2E-05		5
rs11696257	LOC102724968	0.882	0.240	20	40642176	regulatory region variant	C/T	snv		0.36	3
rs7552506	IRF6	0.925	0.240	1	209796557	splice region variant	G/C	snv	0.32	0.32	2
rs397515445	FGFR1	0.807	0.280	8	38414263	missense variant	T/C	snv			7
rs1269636220	WDR11	0.851	0.280	10	120865109	missense variant	A/G	snv			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
rs402710	CLPTM1L	0.716	0.320	5	1320607	non coding transcript exon variant	C/T	snv	0.33	0.38	18
rs522616	MMP3	0.763	0.320	11	102844317	upstream gene variant	T/C	snv		0.23	10
rs2235371	IRF6	0.752	0.360	1	209790735	missense variant	C/T	snv	8.7E-02	3.9E-02	11
rs642961		0.732	0.440	1	209815925	intergenic variant	A/G	snv		0.84	14
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614