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
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14
rs1057519334	NPR2	0.925	0.040	9	35802550	frameshift variant	C/-	del			7
rs1057519946	PPP2R1A	0.732	0.280	19	52212729	missense variant	C/G;T	snv			18
rs112795301	FOXP1	0.776	0.160	3	70972634	stop gained	G/A	snv			13
rs1135401744	KYNU	0.776	0.120	2	142918608	splice acceptor variant	G/T	snv	1.4E-04		14
rs121908425	EVC ; CRMP1	0.763	0.160	4	5748226	stop gained	C/A;T	snv	3.2E-05; 1.2E-05		14
rs121908557	SCN4A ; LOC105371858	0.752	0.280	17	63957514	missense variant	C/T	snv	8.2E-06	1.4E-05	23
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs121918494	FGFR2	0.790	0.160	10	121517363	missense variant	G/C	snv			25
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs1553525325	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.807	0.120	2	166002716	missense variant	A/T	snv			9
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13
rs1554196416	IRAK1BP1 ; PHIP	0.851	0.200	6	78958551	stop gained	G/A	snv			15
rs1554199368	NSD1	0.827	0.160	5	177256956	missense variant	C/T	snv			12
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
rs1554691658	PTCH1	0.807	0.240	9	95459653	frameshift variant	C/GGGTCCACAACATCT	delins			11
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs1555350397	OTX2	0.827	0.200	14	56804268	frameshift variant	ACA/CC	delins			9
rs1555380716	SLC12A6	0.882	0.120	15	34255385	frameshift variant	-/C	delins			5
rs1555528356	ANKRD11	0.790	0.360	16	89282836	stop gained	G/A	snv			13