rs1057516993

Orientation

plus

Stabilized

plus

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

Make rs1057516993(-;A)

Make rs1057516993(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3656760

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs1057516993
dbSNP (classic)	rs1057516993
ClinGen	rs1057516993
ebi	rs1057516993
HLI	rs1057516993
Exac	rs1057516993
Gnomad	rs1057516993
Varsome	rs1057516993
LitVar	rs1057516993
Map	rs1057516993
PheGenI	rs1057516993
Biobank	rs1057516993
1000 genomes	rs1057516993
hgdp	rs1057516993
ensembl	rs1057516993
geneview	rs1057516993
scholar	rs1057516993
google	rs1057516993
pharmgkb	rs1057516993
gwascentral	rs1057516993
openSNP	rs1057516993
23andMe	rs1057516993
SNPshot	rs1057516993
SNPdbe	rs1057516993
MSV3d	rs1057516993
GWAS Ctlg	rs1057516993

Max Magnitude

0

ClinVar
Risk	rs1057516993(A;A)
Alt	rs1057516993(A;A)
Reference	Rs1057516993(-;-)
Significance	Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3560054dupA
CLNSRC
CLNACC	RCV000411977.1,