rs267606754

Orientation

plus

Stabilized

plus

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

Make rs267606754(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3655307

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs267606754
dbSNP (classic)	rs267606754
ClinGen	rs267606754
ebi	rs267606754
HLI	rs267606754
Exac	rs267606754
Gnomad	rs267606754
Varsome	rs267606754
LitVar	rs267606754
Map	rs267606754
PheGenI	rs267606754
Biobank	rs267606754
1000 genomes	rs267606754
hgdp	rs267606754
ensembl	rs267606754
geneview	rs267606754
scholar	rs267606754
google	rs267606754
pharmgkb	rs267606754
gwascentral	rs267606754
openSNP	rs267606754
23andMe	rs267606754
SNPshot	rs267606754
SNPdbe	rs267606754
MSV3d	rs267606754
GWAS Ctlg	rs267606754

Max Magnitude

3

ClinVar
Risk	rs267606754(T;T)
Alt	rs267606754(T;T)
Reference	Rs267606754(C;C)
Significance	Pathogenic
Disease	Juvenile nephropathic cystinosis Cystinosis Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Juvenile nephropathic cystinosis Cystinosis, atypical nephropathic Nephropathic cystinosis Cystinosis
Reversed	0
HGVS	NC_000017.10:g.3558601C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004711.2, RCV000004712.2, RCV000169140.1, RCV000258030.1,