rs113994208

Orientation

plus

Stabilized

plus

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

Make rs113994208(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3656727

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs113994208
dbSNP (classic)	rs113994208
ClinGen	rs113994208
ebi	rs113994208
HLI	rs113994208
Exac	rs113994208
Gnomad	rs113994208
Varsome	rs113994208
LitVar	rs113994208
Map	rs113994208
PheGenI	rs113994208
Biobank	rs113994208
1000 genomes	rs113994208
hgdp	rs113994208
ensembl	rs113994208
geneview	rs113994208
scholar	rs113994208
google	rs113994208
pharmgkb	rs113994208
gwascentral	rs113994208
openSNP	rs113994208
23andMe	rs113994208
SNPshot	rs113994208
SNPdbe	rs113994208
MSV3d	rs113994208
GWAS Ctlg	rs113994208

Max Magnitude

3

ClinVar
Risk	rs113994208(A;A)
Alt	rs113994208(A;A)
Reference	Rs113994208(G;G)
Significance	Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3560021G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020625.2,