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rs1057516771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516771(A;A)
Make rs1057516771(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position3658004
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs1057516771
dbSNP (old)rs1057516771
ClinGenrs1057516771
ebirs1057516771
HLIrs1057516771
Exacrs1057516771
Gnomadrs1057516771
Varsomers1057516771
Maprs1057516771
PheGenIrs1057516771
Biobankrs1057516771
1000 genomesrs1057516771
hgdprs1057516771
ensemblrs1057516771
gopubmedrs1057516771
geneviewrs1057516771
scholarrs1057516771
googlers1057516771
pharmgkbrs1057516771
gwascentralrs1057516771
openSNPrs1057516771
23andMers1057516771
23andMe allrs1057516771
SNPshotrs1057516771
SNPdbers1057516771
MSV3drs1057516771
GWAS Ctlgrs1057516771
Max Magnitude0
ClinVar
Risk rs1057516771(A;A)
Alt rs1057516771(A;A)
Reference Rs1057516771(G;G)
Significance Probable-Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3561298G>A
CLNSRC
CLNACC RCV000410717.1,