rs121908129

Orientation

plus

Stabilized

plus

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

Make rs121908129(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3655101

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs121908129
dbSNP (classic)	rs121908129
ClinGen	rs121908129
ebi	rs121908129
HLI	rs121908129
Exac	rs121908129
Gnomad	rs121908129
Varsome	rs121908129
LitVar	rs121908129
Map	rs121908129
PheGenI	rs121908129
Biobank	rs121908129
1000 genomes	rs121908129
hgdp	rs121908129
ensembl	rs121908129
geneview	rs121908129
scholar	rs121908129
google	rs121908129
pharmgkb	rs121908129
gwascentral	rs121908129
openSNP	rs121908129
23andMe	rs121908129
SNPshot	rs121908129
SNPdbe	rs121908129
MSV3d	rs121908129
GWAS Ctlg	rs121908129

Max Magnitude

3

OMIM	606272
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121908129(T;T)
Alt	rs121908129(T;T)
Reference	Rs121908129(G;G)
Significance	Pathogenic
Disease	Cystinosis
Variation	info
Gene	CTNS
CLNDBN	Cystinosis, atypical nephropathic
Reversed	0
HGVS	NC_000017.10:g.3558395G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004710.2,