rs121908126

Orientation

plus

Stabilized

plus

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

Make rs121908126(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3656531

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs121908126
dbSNP (classic)	rs121908126
ClinGen	rs121908126
ebi	rs121908126
HLI	rs121908126
Exac	rs121908126
Gnomad	rs121908126
Varsome	rs121908126
LitVar	rs121908126
Map	rs121908126
PheGenI	rs121908126
Biobank	rs121908126
1000 genomes	rs121908126
hgdp	rs121908126
ensembl	rs121908126
geneview	rs121908126
scholar	rs121908126
google	rs121908126
pharmgkb	rs121908126
gwascentral	rs121908126
openSNP	rs121908126
23andMe	rs121908126
SNPshot	rs121908126
SNPdbe	rs121908126
MSV3d	rs121908126
GWAS Ctlg	rs121908126

Max Magnitude

3

OMIM	606272
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908126(A;A)
Alt	rs121908126(A;A)
Reference	Rs121908126(G;G)
Significance	Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3559825G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004699.3,