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
rs794727931	ALG8	0.790	0.240	11	78112692	missense variant	A/C	snv			19
rs1555528356	ANKRD11	0.790	0.360	16	89282836	stop gained	G/A	snv			13
rs1557570794	ARID1A	0.742	0.120	1	26697152	frameshift variant	-/GCCGCCTCCCTCCTCCAGCGCC	delins			15
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv			17
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
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1559470315	CTNNB1	0.732	0.320	3	41227287	protein altering variant	CCACAAGCAG/T	delins			26
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv			24
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins			16
rs886041093	EHMT1	0.827	0.280	9	137815998	missense variant	G/A	snv			7
rs753317536	EVC	0.790	0.160	4	5719239	intron variant	G/A;C	snv	8.0E-06; 4.0E-06		12
rs121908425	EVC ; CRMP1	0.763	0.160	4	5748226	stop gained	C/A;T	snv	3.2E-05; 1.2E-05		14
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
rs112795301	FOXP1	0.776	0.160	3	70972634	stop gained	G/A	snv			13
rs1557781252	GATAD2B	0.742	0.320	1	153816414	stop gained	G/A	snv			33
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs886039909	HSPG2	0.882	0.120	1	21864095	splice region variant	C/T	snv			6
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24