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
rs886039909	HSPG2	0.882	0.120	1	21864095	splice region variant	C/T	snv			6
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
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
rs1555380716	SLC12A6	0.882	0.120	15	34255385	frameshift variant	-/C	delins			5
rs1057519334	NPR2	0.925	0.040	9	35802550	frameshift variant	C/-	del			7
rs587784347	PLA2G6	0.742	0.280	22	38113561	missense variant	G/A	snv	8.0E-06		38
rs1567941252	PCGF2	0.807	0.240	17	38739601	missense variant	G/A	snv			10
rs776720232	PGAP3	0.827	0.240	17	39673099	missense variant	T/C;G	snv	4.2E-06		10
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
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
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins			16
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs1561964103	TFAP2B	0.882	0.080	6	50836108	frameshift variant	G/-	delins			7
rs1057519946	PPP2R1A	0.732	0.280	19	52212729	missense variant	C/G;T	snv			18
rs1556955128	HUWE1	0.882	0.240	X	53573795	missense variant	A/C	snv			3
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	26
rs1555350397	OTX2	0.827	0.200	14	56804268	frameshift variant	ACA/CC	delins			9
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
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