rs113994210

Orientation

plus

Stabilized

plus

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

Make rs113994210(C;G)

Make rs113994210(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3659855

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs113994210
dbSNP (classic)	rs113994210
ClinGen	rs113994210
ebi	rs113994210
HLI	rs113994210
Exac	rs113994210
Gnomad	rs113994210
Varsome	rs113994210
LitVar	rs113994210
Map	rs113994210
PheGenI	rs113994210
Biobank	rs113994210
1000 genomes	rs113994210
hgdp	rs113994210
ensembl	rs113994210
geneview	rs113994210
scholar	rs113994210
google	rs113994210
pharmgkb	rs113994210
gwascentral	rs113994210
openSNP	rs113994210
23andMe	rs113994210
SNPshot	rs113994210
SNPdbe	rs113994210
MSV3d	rs113994210
GWAS Ctlg	rs113994210

Max Magnitude

0

OMIM	606272
Desc
Variant	0009
Related	also

ClinVar
Risk	rs113994210(G;G)
Alt	rs113994210(G;G)
Reference	Rs113994210(C;C)
Significance	Pathogenic
Disease	Cystinosis
Variation	info
Gene	CTNS
CLNDBN	Cystinosis, ocular nonnephropathic
Reversed	0
HGVS	NC_000017.10:g.3563149C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004702.2,

[PMID 10625078] Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.