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rs1057517061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517061(C;C)
Make rs1057517061(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3655103
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs1057517061
dbSNP (old)rs1057517061
ClinGenrs1057517061
ebirs1057517061
HLIrs1057517061
Exacrs1057517061
Gnomadrs1057517061
Varsomers1057517061
Maprs1057517061
PheGenIrs1057517061
Biobankrs1057517061
1000 genomesrs1057517061
hgdprs1057517061
ensemblrs1057517061
gopubmedrs1057517061
geneviewrs1057517061
scholarrs1057517061
googlers1057517061
pharmgkbrs1057517061
gwascentralrs1057517061
openSNPrs1057517061
23andMers1057517061
23andMe allrs1057517061
SNPshotrs1057517061
SNPdbers1057517061
MSV3drs1057517061
GWAS Ctlgrs1057517061
Max Magnitude0
ClinVar
Risk rs1057517061(C;C)
Alt rs1057517061(C;C)
Reference Rs1057517061(T;T)
Significance Probable-Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3558397T>C
CLNSRC
CLNACC RCV000410250.1,