DisGeNET - a database of gene-disease associations

List of shared variants

Adult-onset citrullinemia type 2, C1863844

Disease: Citrin deficiency

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
rs80338717	SLC25A13	0.882	0.120	7	96193032	splice region variant	C/T	snv	1.1E-04	2.8E-05	3
rs80338719	SLC25A13	0.882	0.120	7	96191189	stop gained	G/A;T	snv	2.8E-05; 4.0E-06		3
rs80338720	SLC25A13	0.882	0.120	7	96189372	frameshift variant	ATAC/-	delins			3
rs80338722	SLC25A13	0.882	0.120	7	96184276	splice donor variant	C/T	snv	4.8E-05	1.4E-05	3
rs80338725	SLC25A13	0.882	0.120	7	96121928	frameshift variant	-/CCCGGGCAGCCACCTGTAATCTC	delins	8.8E-05	1.4E-05	3
rs80338726	SLC25A13	0.882	0.120	7	96121696	stop gained	-/T;TTT	delins	2.8E-05; 2.4E-05; 8.0E-06		3
rs80338723	SLC25A13	0.925	0.120	7	96170044	splice donor variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 4.0E-06		2