DisGeNET - a database of gene-disease associations

List of associated variants

OTOFACIOCERVICAL SYNDROME 1, C3714941

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
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
rs2124459	CBS	0.827	0.200	21	43055604	3 prime UTR variant	T/C	snv		0.36	5
rs1060499603	EYA1	0.882	0.040	8	71211239	stop gained	C/A	snv			3
rs397517920	LOC105375894 ; EYA1	0.882	0.040	8	71199371	missense variant	A/G	snv			3
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
rs869025180	EYA1	1.000		8	71299637	splice donor variant	C/T	snv			1