DisGeNET - a database of gene-disease associations

List of associated variants

Low set ears, C0239234

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
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13
rs793888541	TFAP2A-AS2 ; TFAP2A	0.807	0.120	6	10404631	missense variant	A/T	snv			7
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	15
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs397507539	PTPN11	0.851	0.160	12	112489047	missense variant	C/A;G;T	snv	4.0E-06		8
rs397507540	PTPN11	0.851	0.160	12	112489048	missense variant	C/A;T	snv			8
rs397507547	PTPN11	0.752	0.280	12	112489086	missense variant	A/G	snv	4.0E-06		14
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs121918494	FGFR2	0.790	0.160	10	121517363	missense variant	G/C	snv			25
rs1564919048	FGFR2	0.732	0.280	10	121520106	missense variant	C/A	snv			23
rs559979281	CLASP1 ; RNU4ATAC ; LOC107985942	0.742	0.440	2	121530892	non coding transcript exon variant	C/G;T	snv	7.7E-06; 2.3E-05; 3.5E-04		23
rs863225422	RNU4ATAC ; CLASP1 ; LOC107985942	0.742	0.440	2	121530927	non coding transcript exon variant	G/A	snv	4.6E-05; 7.7E-06	4.9E-05	23
rs886039792	TXNDC15	0.807	0.280	5	134874531	splice donor variant	G/A	snv			9
rs886041093	EHMT1	0.827	0.280	9	137815998	missense variant	G/A	snv			7
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs1135401744	KYNU	0.776	0.120	2	142918608	splice acceptor variant	G/T	snv	1.4E-04		14
rs1557045296	SLC6A8	1.000		X	153693971	missense variant	C/T	snv			4
rs1557781252	GATAD2B	0.742	0.320	1	153816414	stop gained	G/A	snv			33
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			30
rs1553525325	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.807	0.120	2	166002716	missense variant	A/T	snv			9
rs1554199368	NSD1	0.827	0.160	5	177256956	missense variant	C/T	snv			12
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33