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rs267606754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606754(C;T)
Make rs267606754(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position3655307
GeneCTNS
is asnp
is mentioned by
dbSNPrs267606754
ebirs267606754
HLIrs267606754
Exacrs267606754
Varsomers267606754
Maprs267606754
PheGenIrs267606754
hapmaprs267606754
1000 genomesrs267606754
hgdprs267606754
ensemblrs267606754
gopubmedrs267606754
geneviewrs267606754
scholarrs267606754
googlers267606754
pharmgkbrs267606754
gwascentralrs267606754
openSNPrs267606754
23andMers267606754
23andMe allrs267606754
SNP Nexus

SNPshotrs267606754
SNPdbers267606754
MSV3drs267606754
GWAS Ctlgrs267606754
Max Magnitude0
ClinVar
Risk rs267606754(T;T)
Alt rs267606754(T;T)
Reference rs267606754(C;C)
Significance Pathogenic
Disease Juvenile nephropathic cystinosis Cystinosis
Variation info
Gene CTNS
CLNDBN Juvenile nephropathic cystinosis Cystinosis, atypical nephropathic Cystinosis
Reversed 0
HGVS NC_000017.10:g.3558601C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004711.2, RCV000004712.2, RCV000169140.1,