DisGeNET - a database of gene-disease associations

List of associated variants

Depressed nasal bridge, C1836542

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
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs1057518879	PLOD1	0.776	0.280	1	11965571	stop gained	G/A	snv			19
rs1131692034	EDA	0.790	0.160	X	69616488	stop gained	C/A	snv			14
rs864309488	GMNN	0.776	0.440	6	24777296	missense variant	A/G	snv			14
rs1164484724	MAN1B1	0.790	0.240	9	137108433	stop gained	C/T	snv		7.0E-06	13
rs199473457	KCNQ1	0.827	0.200	11	2572020	missense variant	C/A;T	snv			12
rs1131692229	KIDINS220	0.851	0.120	2	8730956	frameshift variant	GT/-	delins			11
rs794727774	FUCA1	0.827	0.240	1	23848684	stop gained	C/T	snv			11
rs1559662068	BRPF1	0.925		3	9741340	frameshift variant	AG/T	delins			10
rs1567368243	SIN3A	0.882	0.040	15	75411651	frameshift variant	-/T	delins			9
rs397516827	RAF1	0.882	0.160	3	12604194	missense variant	G/A;C;T	snv			9
rs121913375	BRAF	0.851	0.240	7	140753339	missense variant	G/A;C	snv			7
rs542652468	ATP1A3	0.882		19	41986177	missense variant	G/A;T	snv			6
rs1135402759	ZEB2	1.000	0.280	2	144389932	missense variant	T/C	snv			4