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rs1057516296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516296(-;-)
Make rs1057516296(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3655023
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs1057516296
dbSNP (classic)rs1057516296
ClinGenrs1057516296
ebirs1057516296
HLIrs1057516296
Exacrs1057516296
Gnomadrs1057516296
Varsomers1057516296
LitVarrs1057516296
Maprs1057516296
PheGenIrs1057516296
Biobankrs1057516296
1000 genomesrs1057516296
hgdprs1057516296
ensemblrs1057516296
geneviewrs1057516296
scholarrs1057516296
googlers1057516296
pharmgkbrs1057516296
gwascentralrs1057516296
openSNPrs1057516296
23andMers1057516296
SNPshotrs1057516296
SNPdbers1057516296
MSV3drs1057516296
GWAS Ctlgrs1057516296
Max Magnitude0
ClinVar
Risk rs1057516296(-;-)
Alt rs1057516296(-;-)
Reference Rs1057516296(A;A)
Significance Probable-Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3558317delA
CLNSRC
CLNACC RCV000409604.1,