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rs113994207

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994207(A;A)
Make rs113994207(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position3656703
GeneCTNS
is asnp
is mentioned by
dbSNPrs113994207
ebirs113994207
HLIrs113994207
Exacrs113994207
Varsomers113994207
Maprs113994207
PheGenIrs113994207
hapmaprs113994207
1000 genomesrs113994207
hgdprs113994207
ensemblrs113994207
gopubmedrs113994207
geneviewrs113994207
scholarrs113994207
googlers113994207
pharmgkbrs113994207
gwascentralrs113994207
openSNPrs113994207
23andMers113994207
23andMe allrs113994207
SNP Nexus

SNPshotrs113994207
SNPdbers113994207
MSV3drs113994207
GWAS Ctlgrs113994207
Max Magnitude0
OMIM606272
Desc
Variant0011
Relatedalso
ClinVar
Risk rs113994207(A;A)
Alt rs113994207(A;A)
Reference rs113994207(G;G)
Significance Pathogenic
Disease Cystinosis
Variation info
Gene CTNS
CLNDBN Cystinosis, ocular nonnephropathic Cystinosis
Reversed 0
HGVS NC_000017.10:g.3559997G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004704.2, RCV000169004.1,


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