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rs121908129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908129(G;T)
Make rs121908129(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position3655101
GeneCTNS
is asnp
is mentioned by
dbSNPrs121908129
ebirs121908129
HLIrs121908129
Exacrs121908129
Varsomers121908129
Maprs121908129
PheGenIrs121908129
hapmaprs121908129
1000 genomesrs121908129
hgdprs121908129
ensemblrs121908129
gopubmedrs121908129
geneviewrs121908129
scholarrs121908129
googlers121908129
pharmgkbrs121908129
gwascentralrs121908129
openSNPrs121908129
23andMers121908129
23andMe allrs121908129
SNP Nexus

SNPshotrs121908129
SNPdbers121908129
MSV3drs121908129
GWAS Ctlgrs121908129
Max Magnitude0
OMIM606272
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121908129(T;T)
Alt rs121908129(T;T)
Reference rs121908129(G;G)
Significance Pathogenic
Disease Cystinosis
Variation info
Gene CTNS
CLNDBN Cystinosis, atypical nephropathic
Reversed 0
HGVS NC_000017.10:g.3558395G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004710.2,