DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Overgrowth ×

Variants associated to the Gene: BBS10 ×

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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
rs549625604	BBS10	0.752	0.280	12	76347713	frameshift variant	-/A	delins		6.0E-04	13
rs768933093	BBS10	0.807	0.240	12	76348214	missense variant	G/A	snv	4.8E-05	4.9E-05	10
rs1555202806	BBS10	1.000	0.120	12	76348313	frameshift variant	AACGCCGC/-	delins			3
rs778431173	BBS10			12	76346181	missense variant	C/A;G	snv	4.0E-06	7.0E-06	1