DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant neoplasm of breast ×

Variants associated to the Gene: PHB ×

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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
rs6917	PHB	0.790	0.200	17	49404181	3 prime UTR variant	G/A	snv		0.16	7
rs121918372	PHB	1.000	0.080	17	49409410	missense variant	C/T	snv	1.6E-05	2.1E-05	1
rs121918373	PHB	1.000	0.080	17	49409461	missense variant	A/G	snv			1