DisGeNET - a database of gene-disease associations

List of associated variants

Nephropathic cystinosis, C2931187

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
rs746307931	CTNS ; LOC105371492	0.851	0.160	17	3659927	missense variant	G/A	snv	4.0E-06	7.0E-06	4
rs121908125	LOC105371492 ; CTNS	0.882	0.160	17	3655304	stop gained	G/A;C	snv	8.0E-06		3
rs1436441738	LOC105371492 ; CTNS	0.882	0.160	17	3655313	missense variant	C/T	snv	4.0E-06		3
rs375952052	CTNS	0.882	0.160	17	3660224	intron variant	G/A;C	snv	2.0E-05; 4.0E-06		3
rs121908129	LOC105371492 ; CTNS	0.925	0.080	17	3655101	missense variant	G/T	snv			2
rs1475322504	CTNS ; LOC105371492	0.925	0.080	17	3659856	splice acceptor variant	A/G	snv	4.0E-06		2
rs550254092	CTNS ; LOC105371492	0.925	0.080	17	3655273	stop gained	C/G;T	snv	4.0E-06		2
rs764168489	CTNS ; LOC105371492	0.925	0.080	17	3656569	missense variant	T/C	snv	4.0E-06		2
rs886040970	CTNS ; LOC105371492	0.925	0.080	17	3655288	missense variant	A/T	snv			2
rs1057516723	CTNS ; LOC105371492	1.000	0.080	17	3656797	splice donor variant	T/C	snv			1
rs1057516771	CTNS ; LOC105371492	1.000	0.080	17	3658004	splice acceptor variant	G/A	snv			1
rs1057517330	CTNS	1.000	0.080	17	3660367	stop lost	T/C	snv			1
rs1212133760	LOC105371492 ; CTNS	1.000	0.080	17	3659898	missense variant	G/A	snv	4.0E-06		1
rs121908124	LOC105371492 ; CTNS	1.000	0.080	17	3655055	stop gained	G/T	snv			1
rs121908126	LOC105371492 ; CTNS	1.000	0.080	17	3656531	missense variant	G/A	snv			1
rs121908127	CTNS	1.000	0.080	17	3660280	missense variant	G/A	snv	3.2E-05	3.5E-05	1
rs1327959008	LOC105371492 ; CTNS	1.000	0.080	17	3656779	missense variant	A/G	snv	4.0E-06		1
rs1555558034	CTNS ; LOC105371493	1.000	0.080	17	3640187	splice acceptor variant	G/A	snv			1
rs1555558116	CTNS ; LOC105371493	1.000	0.080	17	3640268	splice donor variant	G/A	snv			1
rs1555560637	LOC105371493 ; CTNS	1.000	0.080	17	3647442	splice acceptor variant	A/G	snv			1
rs1555561049	CTNS ; LOC105371493	1.000	0.080	17	3648932	splice donor variant	G/A	snv			1
rs1555563010	LOC105371492 ; CTNS	1.000	0.080	17	3655342	missense variant	A/G	snv			1
rs1555563446	LOC105371492 ; CTNS	1.000	0.080	17	3656543	missense variant	A/G	snv			1