DisGeNET - a database of gene-disease associations

List of associated variants

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, C1836474

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
rs56144125	TPP1	0.827	0.240	11	6617154	splice acceptor variant	C/A;G;T	snv	4.0E-04; 1.2E-05		6
rs119455955	TPP1	0.851	0.120	11	6617040	stop gained	G/A	snv	2.2E-04	2.4E-04	4
rs119455957	TPP1	0.882	0.120	11	6616696	missense variant	C/A	snv	8.0E-06	7.0E-06	3
rs756564767	TPP1	0.882	0.120	11	6617627	stop gained	G/A	snv	6.4E-05	4.2E-05	3
rs398122959	TPP1	0.925	0.120	11	6615199	missense variant	A/C	snv	4.0E-06	1.4E-05	2
rs886037833	TPP1	1.000	0.080	11	6616361	missense variant	C/G	snv			1