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rs121908128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908128(C;G)
Make rs121908128(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position3659974
GeneCTNS
is asnp
is mentioned by
dbSNPrs121908128
ebirs121908128
HLIrs121908128
Exacrs121908128
Varsomers121908128
Maprs121908128
PheGenIrs121908128
hapmaprs121908128
1000 genomesrs121908128
hgdprs121908128
ensemblrs121908128
gopubmedrs121908128
geneviewrs121908128
scholarrs121908128
googlers121908128
pharmgkbrs121908128
gwascentralrs121908128
openSNPrs121908128
23andMers121908128
23andMe allrs121908128
SNP Nexus

SNPshotrs121908128
SNPdbers121908128
MSV3drs121908128
GWAS Ctlgrs121908128
Max Magnitude0
OMIM606272
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121908128(G,T;G,T)
Alt rs121908128(G,T;G,T)
Reference rs121908128(C;C)
Significance Pathogenic
Disease Juvenile nephropathic cystinosis
Variation info
Gene CTNS
CLNDBN Juvenile nephropathic cystinosis
Reversed 0
HGVS NC_000017.10:g.3563268C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004709.2,