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rs113994206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994206(C;C)
Make rs113994206(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position3656498
GeneCTNS
is asnp
is mentioned by
dbSNPrs113994206
ClinGenrs113994206
ebirs113994206
HLIrs113994206
Exacrs113994206
Varsomers113994206
Maprs113994206
PheGenIrs113994206
hapmaprs113994206
1000 genomesrs113994206
hgdprs113994206
ensemblrs113994206
gopubmedrs113994206
geneviewrs113994206
scholarrs113994206
googlers113994206
pharmgkbrs113994206
gwascentralrs113994206
openSNPrs113994206
23andMers113994206
23andMe allrs113994206
SNP Nexus

SNPshotrs113994206
SNPdbers113994206
MSV3drs113994206
GWAS Ctlgrs113994206
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs113994206(C;C)
Alt rs113994206(C;C)
Reference Rs113994206(T;T)
Significance Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3559792T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000020624.2,


[PMID 12644911] New aspects of the pathogenesis of cystinosis.