DisGeNET - a database of gene-disease associations

List of associated variants

Low-set, posteriorly rotated ears, C1857486

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
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs1565679039	COL2A1	0.701	0.400	12	47983399	stop gained	T/A	snv			45
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs77078070	KLHL7	0.742	0.280	7	23165737	stop gained	C/T	snv	1.2E-05	1.4E-05	26
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs397507531	PTPN11	0.752	0.320	12	112473040	missense variant	T/C;G	snv			18
rs1553284997	DIPK1A ; RPL5	0.790	0.400	1	92833544	splice acceptor variant	G/C	snv			17
rs1563686762	RAD21 ; UTP23	0.790	0.280	8	116847620	inframe deletion	GTT/-	delins			16
rs267607079	SOS1	0.776	0.240	2	39022772	missense variant	C/A;G	snv			13
rs180177039	BRAF	0.851	0.160	7	140778006	missense variant	T/A;C;G	snv			12
rs876657380	ARID1B	0.851	0.360	6	157181155	frameshift variant	AA/-	delins			11
rs1559662068	BRPF1	0.925		3	9741340	frameshift variant	AG/T	delins			10
rs1565329461	DYNC2H1	0.851	0.200	11	103135949	splice donor variant	G/A	snv			9
rs1557106484	ATRX			X	77633315	missense variant	C/A	snv			7