DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Generalized hypotonia ×

Variants associated to the Gene: BPTF ×

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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
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs1425998598	BPTF	0.763	0.240	17	67918802	missense variant	G/A;C	snv	1.2E-05		19
rs1555639076	BPTF	0.790	0.400	17	67893677	splice donor variant	A/-	delins			16
rs1555639411	BPTF	0.790	0.360	17	67894102	frameshift variant	-/G	delins			10