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rs1057517093

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs1057517093(-;-)
Make rs1057517093(-;CA)
Make rs1057517093(CA;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3656544
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs1057517093
dbSNP (old)rs1057517093
ClinGenrs1057517093
ebirs1057517093
HLIrs1057517093
Exacrs1057517093
Gnomadrs1057517093
Varsomers1057517093
Maprs1057517093
PheGenIrs1057517093
Biobankrs1057517093
1000 genomesrs1057517093
hgdprs1057517093
ensemblrs1057517093
gopubmedrs1057517093
geneviewrs1057517093
scholarrs1057517093
googlers1057517093
pharmgkbrs1057517093
gwascentralrs1057517093
openSNPrs1057517093
23andMers1057517093
23andMe allrs1057517093
SNPshotrs1057517093
SNPdbers1057517093
MSV3drs1057517093
GWAS Ctlgrs1057517093
Max Magnitude0
ClinVar
Risk rs1057517093(-;-)
Alt rs1057517093(-;-)
Reference Rs1057517093(AC;AC)
Significance Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3559838_3559839delCA
CLNSRC
CLNACC RCV000409104.1,