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rs113994208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a cystinosis mutation
(G;G) 0 common in clinvar


Make rs113994208(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position3656727
GeneCTNS, LOC105371492
is asnp
is mentioned by
dbSNPrs113994208
dbSNP (classic)rs113994208
ClinGenrs113994208
ebirs113994208
HLIrs113994208
Exacrs113994208
Gnomadrs113994208
Varsomers113994208
LitVarrs113994208
Maprs113994208
PheGenIrs113994208
Biobankrs113994208
1000 genomesrs113994208
hgdprs113994208
ensemblrs113994208
geneviewrs113994208
scholarrs113994208
googlers113994208
pharmgkbrs113994208
gwascentralrs113994208
openSNPrs113994208
23andMers113994208
SNPshotrs113994208
SNPdbers113994208
MSV3drs113994208
GWAS Ctlgrs113994208
Max Magnitude3
ClinVar
Risk rs113994208(A;A)
Alt rs113994208(A;A)
Reference Rs113994208(G;G)
Significance Pathogenic
Disease Nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3560021G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000020625.2,