rs786204550

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(ATTACTATCCTTGAGCTCCCC;ATTACTATCCTTGAGCTCCCC)	0	common in clinvar

Make rs786204550(-;-)

Make rs786204550(-;ATTACTATCCTTGAGCTCCCC)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

3648905

Gene	CTNS, LOC105371493

is a	snp
is	mentioned by
dbSNP	rs786204550
dbSNP (classic)	rs786204550
ClinGen	rs786204550
ebi	rs786204550
HLI	rs786204550
Exac	rs786204550
Gnomad	rs786204550
Varsome	rs786204550
LitVar	rs786204550
Map	rs786204550
PheGenI	rs786204550
Biobank	rs786204550
1000 genomes	rs786204550
hgdp	rs786204550
ensembl	rs786204550
geneview	rs786204550
scholar	rs786204550
google	rs786204550
pharmgkb	rs786204550
gwascentral	rs786204550
openSNP	rs786204550
23andMe	rs786204550
SNPshot	rs786204550
SNPdbe	rs786204550
MSV3d	rs786204550
GWAS Ctlg	rs786204550

Max Magnitude

0

ClinVar
Risk	rs786204550(-;-)
Alt	rs786204550(-;-)
Reference	Rs786204550(ATTACTATCCTTGAGCTCCCC;ATTACTATCCTTGAGCTCCCC)
Significance	Probable-Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3552199_3552219del21
CLNSRC
CLNACC	RCV000169266.1,