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rs161400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs161400(C;C)
Make rs161400(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position3658102
GeneCTNS
is asnp
is mentioned by
dbSNPrs161400
ebirs161400
HLIrs161400
Exacrs161400
Varsomers161400
Maprs161400
PheGenIrs161400
hapmaprs161400
1000 genomesrs161400
hgdprs161400
ensemblrs161400
gopubmedrs161400
geneviewrs161400
scholarrs161400
googlers161400
pharmgkbrs161400
gwascentralrs161400
openSNPrs161400
23andMers161400
23andMe allrs161400
SNP Nexus

SNPshotrs161400
SNPdbers161400
MSV3drs161400
GWAS Ctlgrs161400
GMAF0.1598
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene CTNS
allele T
frequency 0.992
sift TOLERATED
HuRef 1103645264168
Disease Association Defects in CTNS are the cause of cystinosis (MIM:219800, 219900, 219750). This autosomal recessive disorder results from defective lysosomal transport of cystine. The classical nephropathic form is characterized by renal failure at 10 years of age and other systemic complications. Milder phenotype exist such as intermediate cystinosis, with later onset of renal disease and benign or nonnephropathic cystinosis, with symptoms related only to corneal crystals and photophobia.



GET Evidence
CTNS-T260I
aa_change Thr260Ile
aa_change_short T260I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.8285
summary