rs35086888

Orientation

minus

Stabilized

minus

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

Make rs35086888(C;T)

Make rs35086888(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

3647506

Gene	CTNS, LOC105371493

is a	snp
is	mentioned by
dbSNP	rs35086888
dbSNP (classic)	rs35086888
ClinGen	rs35086888
ebi	rs35086888
HLI	rs35086888
Exac	rs35086888
Gnomad	rs35086888
Varsome	rs35086888
LitVar	rs35086888
Map	rs35086888
PheGenI	rs35086888
Biobank	rs35086888
1000 genomes	rs35086888
hgdp	rs35086888
ensembl	rs35086888
geneview	rs35086888
scholar	rs35086888
google	rs35086888
pharmgkb	rs35086888
gwascentral	rs35086888
openSNP	rs35086888
23andMe	rs35086888
SNPshot	rs35086888
SNPdbe	rs35086888
MSV3d	rs35086888
GWAS Ctlg	rs35086888

GMAF

0.01607

Max Magnitude

0

OMIM	606272
Desc
Variant	0007
Related	also

ClinVar
Risk	rs35086888(T;T)
Alt	rs35086888(T;T)
Reference	Rs35086888(C;C)
Significance	Pathogenic
Disease	Cystinosis Nephropathic cystinosis not provided
Variation	info
Gene	CTNS
CLNDBN	Cystinosis, atypical nephropathic Nephropathic cystinosis Cystinosis not provided
Reversed	1
HGVS	NC_000017.10:g.3550800G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004700.3, RCV000276289.1, RCV000333816.1, RCV000440461.1,