DisGeNET - a database of gene-disease associations

List of associated variants

OROFACIAL CLEFT 1, C1861537

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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs234709	CBS	0.827	0.200	21	43066854	intron variant	C/T	snv			7
rs4752028	SHTN1	0.807	0.200	10	117075480	intron variant	C/T	snv		0.73	6
rs2124459	CBS	0.827	0.200	21	43055604	3 prime UTR variant	T/C	snv		0.36	5
rs7078160	SHTN1	0.851	0.120	10	117068049	intron variant	G/A	snv		0.19	4
rs4938016	ANKK1	0.925	0.120	11	113399293	missense variant	G/A;C;T	snv	1.7E-04; 0.64; 2.0E-03		2
rs234705	CBS	0.925	0.120	21	43063662	intron variant	C/T	snv			2
rs1076562	DRD2	0.925	0.120	11	113425286	intron variant	A/G	snv		0.65	2
rs2855530	BMP4	1.000	0.120	14	53955199	non coding transcript exon variant	G/C	snv		0.50	1