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rs113994209

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs113994209(-;C)
Make rs113994209(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position3658019
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs113994209
dbSNP (classic)rs113994209
ClinGenrs113994209
ebirs113994209
HLIrs113994209
Exacrs113994209
Gnomadrs113994209
Varsomers113994209
LitVarrs113994209
Maprs113994209
PheGenIrs113994209
Biobankrs113994209
1000 genomesrs113994209
hgdprs113994209
ensemblrs113994209
geneviewrs113994209
scholarrs113994209
googlers113994209
pharmgkbrs113994209
gwascentralrs113994209
openSNPrs113994209
23andMers113994209
SNPshotrs113994209
SNPdbers113994209
MSV3drs113994209
GWAS Ctlgrs113994209
Max Magnitude0
ClinVar
Risk rs113994209(C;C)
Alt rs113994209(C;C)
Reference Rs113994209(-;-)
Significance Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3561313dupC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020626.2,