rs121908124

Orientation

plus

Stabilized

plus

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

Make rs121908124(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3655055

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs121908124
dbSNP (classic)	rs121908124
ClinGen	rs121908124
ebi	rs121908124
HLI	rs121908124
Exac	rs121908124
Gnomad	rs121908124
Varsome	rs121908124
LitVar	rs121908124
Map	rs121908124
PheGenI	rs121908124
Biobank	rs121908124
1000 genomes	rs121908124
hgdp	rs121908124
ensembl	rs121908124
geneview	rs121908124
scholar	rs121908124
google	rs121908124
pharmgkb	rs121908124
gwascentral	rs121908124
openSNP	rs121908124
23andMe	rs121908124
SNPshot	rs121908124
SNPdbe	rs121908124
MSV3d	rs121908124
GWAS Ctlg	rs121908124

Max Magnitude

3

OMIM	606272
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908124(T;T)
Alt	rs121908124(T;T)
Reference	Rs121908124(G;G)
Significance	Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3558349G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004691.3,