DisGeNET - a database of gene-disease associations

List of associated variants

Anteverted nostril, C1840077

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
rs1555154946	ARID2 ; LOC105369745	0.827	0.120	12	45850644	stop gained	C/T	snv			16
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins			16
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
rs1164484724	MAN1B1	0.790	0.240	9	137108433	stop gained	C/T	snv		7.0E-06	13
rs1554032789	NIPBL	0.925	0.160	5	37048547	missense variant	T/A	snv			13
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del			9
rs397516827	RAF1	0.882	0.160	3	12604194	missense variant	G/A;C;T	snv			9
rs1057518913	EHMT1	0.851	0.320	9	137762822	splice donor variant	T/C	snv			7
rs1057518864	TCF4	0.925		18	55350409	splice acceptor variant	C/T	snv			7
rs1057518872	GJA1	0.882	0.160	6	121447287	missense variant	T/C	snv			5