DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Microcephaly (physical finding) ×

Variants associated to the Gene: BRF1 ×

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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
rs370270828	BRF1	0.882	0.160	14	105241292	missense variant	G/A	snv	8.0E-06	2.8E-05	7
rs373957300	BRF1	0.882	0.160	14	105228832	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs606231416	BRF1	0.882	0.160	14	105241282	missense variant	G/A	snv	8.1E-06		7
rs606231450	BRF1	0.882	0.160	14	105226674	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		7