DisGeNET - a database of gene-disease associations

List of shared variants

Cleft palate with cleft lip, C0158646

Disease: Cleft Palate

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
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
rs642961		0.732	0.440	1	209815925	intergenic variant	A/G	snv		0.84	14
rs2235371	IRF6	0.752	0.360	1	209790735	missense variant	C/T	snv	8.7E-02	3.9E-02	11
rs12532	MSX1	0.790	0.200	4	4863419	3 prime UTR variant	A/G	snv		0.36	10
rs522616	MMP3	0.763	0.320	11	102844317	upstream gene variant	T/C	snv		0.23	10
rs4752028	SHTN1	0.807	0.200	10	117075480	intron variant	C/T	snv		0.73	6
rs227731		0.882	0.120	17	56695877	intergenic variant	T/A;G	snv			4
rs6072081	LOC102724968	0.851	0.120	20	40632414	intergenic variant	A/G	snv		0.49	4
rs7078160	SHTN1	0.851	0.120	10	117068049	intron variant	G/A	snv		0.19	4
rs8179096	TIMP2	0.851	0.200	17	78925567	upstream gene variant	G/A;C	snv			4