rs1057516723

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs1057516723(C;C)

Make rs1057516723(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3656797

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs1057516723
dbSNP (classic)	rs1057516723
ClinGen	rs1057516723
ebi	rs1057516723
HLI	rs1057516723
Exac	rs1057516723
Gnomad	rs1057516723
Varsome	rs1057516723
LitVar	rs1057516723
Map	rs1057516723
PheGenI	rs1057516723
Biobank	rs1057516723
1000 genomes	rs1057516723
hgdp	rs1057516723
ensembl	rs1057516723
geneview	rs1057516723
scholar	rs1057516723
google	rs1057516723
pharmgkb	rs1057516723
gwascentral	rs1057516723
openSNP	rs1057516723
23andMe	rs1057516723
SNPshot	rs1057516723
SNPdbe	rs1057516723
MSV3d	rs1057516723
GWAS Ctlg	rs1057516723

Max Magnitude

0

ClinVar
Risk	rs1057516723(C;C)
Alt	rs1057516723(C;C)
Reference	Rs1057516723(T;T)
Significance	Probable-Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3560091T>C
CLNSRC
CLNACC	RCV000410327.1,