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rs113994210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994210(C;G)
Make rs113994210(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position3659855
GeneCTNS
is asnp
is mentioned by
dbSNPrs113994210
ebirs113994210
HLIrs113994210
Exacrs113994210
Varsomers113994210
Maprs113994210
PheGenIrs113994210
hapmaprs113994210
1000 genomesrs113994210
hgdprs113994210
ensemblrs113994210
gopubmedrs113994210
geneviewrs113994210
scholarrs113994210
googlers113994210
pharmgkbrs113994210
gwascentralrs113994210
openSNPrs113994210
23andMers113994210
23andMe allrs113994210
SNP Nexus

SNPshotrs113994210
SNPdbers113994210
MSV3drs113994210
GWAS Ctlgrs113994210
Max Magnitude0
OMIM606272
Desc
Variant0009
Relatedalso
ClinVar
Risk rs113994210(G;G)
Alt rs113994210(G;G)
Reference rs113994210(C;C)
Significance Pathogenic
Disease Cystinosis
Variation info
Gene CTNS
CLNDBN Cystinosis, ocular nonnephropathic
Reversed 0
HGVS NC_000017.10:g.3563149C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004702.2,


[PMID 10625078] Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.