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rs1057516993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516993(-;A)
Make rs1057516993(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3656760
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs1057516993
dbSNP (old)rs1057516993
ClinGenrs1057516993
ebirs1057516993
HLIrs1057516993
Exacrs1057516993
Gnomadrs1057516993
Varsomers1057516993
LitVarrs1057516993
Maprs1057516993
PheGenIrs1057516993
Biobankrs1057516993
1000 genomesrs1057516993
hgdprs1057516993
ensemblrs1057516993
gopubmedrs1057516993
geneviewrs1057516993
scholarrs1057516993
googlers1057516993
pharmgkbrs1057516993
gwascentralrs1057516993
openSNPrs1057516993
23andMers1057516993
23andMe allrs1057516993
SNPshotrs1057516993
SNPdbers1057516993
MSV3drs1057516993
GWAS Ctlgrs1057516993
Max Magnitude0
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,