DisGeNET - a database of gene-disease associations

List of shared variants

Short nose, C1854114

Disease: Low set ears

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
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
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
rs1559470315	CTNNB1	0.732	0.320	3	41227287	protein altering variant	CCACAAGCAG/T	delins			26