DisGeNET - a database of gene-disease associations

List of associated variants

Macrostomia, C0024433

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
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1555528356	ANKRD11	0.790	0.360	16	89282836	stop gained	G/A	snv			13
rs794727774	FUCA1	0.827	0.240	1	23848684	stop gained	C/T	snv			11
rs1334099693	SOX4	0.882	0.080	6	21594732	missense variant	C/A;T	snv	4.6E-06		11
rs1057516044	ABCC9	0.851	0.240	12	21913005	missense variant	A/G	snv			9
rs1131691804	FBN1	0.807	0.200	15	48463123	missense variant	G/A	snv			8
rs397507481	BRAF	0.882	0.240	7	140754206	missense variant	G/C;T	snv			4