DisGeNET - a database of gene-disease associations

List of shared variants

Juvenile nephropathic cystinosis (disorder), C0268626

Disease: Cystinosis

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
rs113994205	CTNS ; LOC105371492	0.827	0.160	17	3655305	stop gained	G/A	snv	4.8E-05	9.8E-05	5
rs113994207	CTNS ; LOC105371492	0.851	0.160	17	3656703	missense variant	G/A	snv	5.6E-05	4.2E-05	4
rs113994211	LOC105371492 ; CTNS	0.851	0.160	17	3656573	splice donor variant	AAGGTACGGCCTTGCCTGCCCTACATC/-	delins			4
rs746307931	CTNS ; LOC105371492	0.851	0.160	17	3659927	missense variant	G/A	snv	4.0E-06	7.0E-06	4
rs759623796	CTNS ; LOC105371492	0.851	0.160	17	3658082	frameshift variant	GGGAGTGACCACGTGGCTGCAGT/-	delins	2.8E-05		4
rs786204501	LOC105371493 ; CTNS	0.851	0.160	17	3640222	frameshift variant	GACT/-	delins		4.9E-05	4
rs267606754	CTNS ; LOC105371492	0.882	0.160	17	3655307	missense variant	C/T	snv	8.0E-06	7.0E-06	3