DisGeNET - a database of gene-disease associations

List of shared variants

Cystinosis, benign, nonnephropathic, C2931013

Disease: Nephropathic cystinosis

Source: ALL

Results per page

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
rs1436441738	LOC105371492 ; CTNS	0.882	0.160	17	3655313	missense variant	C/T	snv	4.0E-06		3
rs1555564051	LOC105371492 ; CTNS	0.882	0.160	17	3658074	frameshift variant	ACCA/CG	delins			3
rs375952052	CTNS	0.882	0.160	17	3660224	intron variant	G/A;C	snv	2.0E-05; 4.0E-06		3
rs879758262	LOC105371493 ; CTNS	0.882	0.160	17	3648912	frameshift variant	TCCTT/-	del			3
rs893207601	LOC105371492 ; CTNS	0.882	0.160	17	3656759	frameshift variant	-/A;AA	delins	8.0E-06		3