DisGeNET - a database of gene-disease associations

List of shared variants

High, narrow palate, C1837404

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
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
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs1563183492	AUTS2	0.708	0.520	7	70766248	missense variant	C/T	snv			32
rs121918467	PTPN11	0.807	0.280	12	112486482	missense variant	C/A;T	snv	8.0E-06; 1.2E-05		23