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rs879255616

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255616(-;-)
Make rs879255616(-;C)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position3647502
GeneCTNS, LOC105371493
is asnp
is mentioned by
dbSNPrs879255616
dbSNP (classic)rs879255616
ClinGenrs879255616
ebirs879255616
HLIrs879255616
Exacrs879255616
Gnomadrs879255616
Varsomers879255616
LitVarrs879255616
Maprs879255616
PheGenIrs879255616
Biobankrs879255616
1000 genomesrs879255616
hgdprs879255616
ensemblrs879255616
geneviewrs879255616
scholarrs879255616
googlers879255616
pharmgkbrs879255616
gwascentralrs879255616
openSNPrs879255616
23andMers879255616
SNPshotrs879255616
SNPdbers879255616
MSV3drs879255616
GWAS Ctlgrs879255616
Max Magnitude0
ClinVar
Risk rs879255616(-;-)
Alt rs879255616(-;-)
Reference Rs879255616(C;C)
Significance Pathogenic
Disease Cystinosis
Variation info
Gene CTNS
CLNDBN Cystinosis
Reversed 0
HGVS NC_000017.10:g.3550796delC
CLNSRC
CLNACC RCV000239634.1,