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
rs912001256	SCN4A	0.851	0.240	17	63947062	stop gained	G/A	snv			17
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs397516827	RAF1	0.882	0.160	3	12604194	missense variant	G/A;C;T	snv			9
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs1554032789	NIPBL	0.925	0.160	5	37048547	missense variant	T/A	snv			13
rs1057518913	EHMT1	0.851	0.320	9	137762822	splice donor variant	T/C	snv			7
rs1057518872	GJA1	0.882	0.160	6	121447287	missense variant	T/C	snv			5