rs786204501

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GACT)	3	Carrier of a cystinosis mutation
(CTGA;CTGA)	0	common in clinvar
(GACT;GACT)	0	common in clinvar
(I;I)	0	common genotype

Make rs786204501(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

3640224

Gene	CTNS, LOC105371493

is a	snp
is	mentioned by
dbSNP	rs786204501
dbSNP (classic)	rs786204501
ClinGen	rs786204501
ebi	rs786204501
HLI	rs786204501
Exac	rs786204501
Gnomad	rs786204501
Varsome	rs786204501
LitVar	rs786204501
Map	rs786204501
PheGenI	rs786204501
Biobank	rs786204501
1000 genomes	rs786204501
hgdp	rs786204501
ensembl	rs786204501
geneview	rs786204501
scholar	rs786204501
google	rs786204501
pharmgkb	rs786204501
gwascentral	rs786204501
openSNP	rs786204501
23andMe	rs786204501
SNPshot	rs786204501
SNPdbe	rs786204501
MSV3d	rs786204501
GWAS Ctlg	rs786204501

Max Magnitude

3

ClinVar
Risk	rs786204501(-;-) Rs786204501(CTGA;CTGA)
Alt	rs786204501(-;-) Rs786204501(CTGA;CTGA)
Reference	Rs786204501(GACT;GACT)
Significance	Pathogenic
Disease	Nephropathic cystinosis Cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis Cystinosis
Reversed	0
HGVS	NC_000017.10:g.3543518_3543521delGACT
CLNSRC
CLNACC	RCV000169183.2, RCV000258029.1,