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rs121908127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908127(A;A)
Make rs121908127(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position3660280
GeneCTNS
is asnp
is mentioned by
dbSNPrs121908127
ebirs121908127
HLIrs121908127
Exacrs121908127
Varsomers121908127
Maprs121908127
PheGenIrs121908127
hapmaprs121908127
1000 genomesrs121908127
hgdprs121908127
ensemblrs121908127
gopubmedrs121908127
geneviewrs121908127
scholarrs121908127
googlers121908127
pharmgkbrs121908127
gwascentralrs121908127
openSNPrs121908127
23andMers121908127
23andMe allrs121908127
SNP Nexus

SNPshotrs121908127
SNPdbers121908127
MSV3drs121908127
GWAS Ctlgrs121908127
Max Magnitude0
OMIM606272
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121908127(A;A)
Alt rs121908127(A;A)
Reference rs121908127(G;G)
Significance Pathogenic
Disease Cystinosis
Variation info
Gene CTNS
CLNDBN Cystinosis
Reversed 0
HGVS NC_000017.10:g.3563574G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004708.2,