DisGeNET - a database of gene-disease associations

List of shared variants

Cerebral atrophy, C0235946

Disease: Cerebellar atrophy

Source: ALL

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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
rs139632595	EXOSC9	0.807	0.160	4	121801465	missense variant	T/C	snv	6.0E-05	2.5E-04	19
rs1057516264	TPP1	0.776	0.280	11	6614968	frameshift variant	C/-;CC	delins			13
rs869320624	EMC1-AS1 ; EMC1	0.776	0.400	1	19220814	frameshift variant	AAGG/-	delins		1.4E-05	13
rs1554901898	TPP1	0.776	0.280	11	6616858	frameshift variant	A/-	delins			12
rs864309505	TPP1	0.807	0.200	11	6615220	missense variant	T/G	snv			10
rs1554902217	TPP1	0.851	0.160	11	6618821	frameshift variant	A/-	del			7
rs1555642784	CNTNAP1	0.851	0.160	17	42688979	frameshift variant	-/C	delins			5