Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516723(C;C)
Make rs1057516723(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3656797
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs1057516723
dbSNP (classic)rs1057516723
ClinGenrs1057516723
ebirs1057516723
HLIrs1057516723
Exacrs1057516723
Gnomadrs1057516723
Varsomers1057516723
LitVarrs1057516723
Maprs1057516723
PheGenIrs1057516723
Biobankrs1057516723
1000 genomesrs1057516723
hgdprs1057516723
ensemblrs1057516723
geneviewrs1057516723
scholarrs1057516723
googlers1057516723
pharmgkbrs1057516723
gwascentralrs1057516723
openSNPrs1057516723
23andMers1057516723
23andMe allrs1057516723
SNPshotrs1057516723
SNPdbers1057516723
MSV3drs1057516723
GWAS Ctlgrs1057516723
Max Magnitude0
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,