DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: pineoblastoma ×

Variants associated to the Gene: DICER1 ×

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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
rs875989784	DICER1	0.925	0.080	14	95096510	frameshift variant	AAGA/-	delins			3
rs875989779	DICER1	0.925	0.080	14	95096166	stop gained	G/C	snv			2
rs875989780	DICER1	0.925	0.080	14	95094149	stop gained	G/C;T	snv			2
rs875989783	DICER1	1.000	0.080	14	95103345	splice donor variant	C/T	snv			2
rs875989781	DICER1	1.000	0.080	14	95096286	frameshift variant	-/A	delins			1
rs875989782	DICER1	1.000	0.080	14	95117633	stop gained	T/A	snv			1