DisGeNET - a database of gene-disease associations

List of shared variants

Depressed nasal bridge, C1836542

Disease: Orbital separation excessive

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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	26
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs121913375	BRAF	0.851	0.240	7	140753339	missense variant	G/A;C	snv			7