rs1057516771

Orientation

plus

Stabilized

plus

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

Make rs1057516771(A;A)

Make rs1057516771(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3658004

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs1057516771
dbSNP (classic)	rs1057516771
ClinGen	rs1057516771
ebi	rs1057516771
HLI	rs1057516771
Exac	rs1057516771
Gnomad	rs1057516771
Varsome	rs1057516771
LitVar	rs1057516771
Map	rs1057516771
PheGenI	rs1057516771
Biobank	rs1057516771
1000 genomes	rs1057516771
hgdp	rs1057516771
ensembl	rs1057516771
geneview	rs1057516771
scholar	rs1057516771
google	rs1057516771
pharmgkb	rs1057516771
gwascentral	rs1057516771
openSNP	rs1057516771
23andMe	rs1057516771
SNPshot	rs1057516771
SNPdbe	rs1057516771
MSV3d	rs1057516771
GWAS Ctlg	rs1057516771

Max Magnitude

0

ClinVar
Risk	rs1057516771(A;A)
Alt	rs1057516771(A;A)
Reference	Rs1057516771(G;G)
Significance	Probable-Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3561298G>A
CLNSRC
CLNACC	RCV000410717.1,