rs121908128

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of a cystinosis mutation

Make rs121908128(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3659974

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs121908128
dbSNP (classic)	rs121908128
ClinGen	rs121908128
ebi	rs121908128
HLI	rs121908128
Exac	rs121908128
Gnomad	rs121908128
Varsome	rs121908128
LitVar	rs121908128
Map	rs121908128
PheGenI	rs121908128
Biobank	rs121908128
1000 genomes	rs121908128
hgdp	rs121908128
ensembl	rs121908128
geneview	rs121908128
scholar	rs121908128
google	rs121908128
pharmgkb	rs121908128
gwascentral	rs121908128
openSNP	rs121908128
23andMe	rs121908128
SNPshot	rs121908128
SNPdbe	rs121908128
MSV3d	rs121908128
GWAS Ctlg	rs121908128

Max Magnitude

3

OMIM	606272
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121908128(G;G) rs121908128(T;T)
Alt	rs121908128(G;G) rs121908128(T;T)
Reference	Rs121908128(C;C)
Significance	Pathogenic
Disease	Juvenile nephropathic cystinosis not specified
Variation	info
Gene	CTNS
CLNDBN	Juvenile nephropathic cystinosis not specified
Reversed	0
HGVS	NC_000017.10:g.3563268C>G; NC_000017.10:g.3563268C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004709.2, RCV000329315.1,