rs1057517061

Orientation

plus

Stabilized

plus

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

Make rs1057517061(C;C)

Make rs1057517061(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3655103

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs1057517061
dbSNP (classic)	rs1057517061
ClinGen	rs1057517061
ebi	rs1057517061
HLI	rs1057517061
Exac	rs1057517061
Gnomad	rs1057517061
Varsome	rs1057517061
LitVar	rs1057517061
Map	rs1057517061
PheGenI	rs1057517061
Biobank	rs1057517061
1000 genomes	rs1057517061
hgdp	rs1057517061
ensembl	rs1057517061
geneview	rs1057517061
scholar	rs1057517061
google	rs1057517061
pharmgkb	rs1057517061
gwascentral	rs1057517061
openSNP	rs1057517061
23andMe	rs1057517061
SNPshot	rs1057517061
SNPdbe	rs1057517061
MSV3d	rs1057517061
GWAS Ctlg	rs1057517061

Max Magnitude

0

ClinVar
Risk	rs1057517061(C;C)
Alt	rs1057517061(C;C)
Reference	Rs1057517061(T;T)
Significance	Probable-Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3558397T>C
CLNSRC
CLNACC	RCV000410250.1,