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rs121908124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908124(G;T)
Make rs121908124(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position3655055
GeneCTNS
is asnp
is mentioned by
dbSNPrs121908124
ebirs121908124
HLIrs121908124
Exacrs121908124
Varsomers121908124
Maprs121908124
PheGenIrs121908124
hapmaprs121908124
1000 genomesrs121908124
hgdprs121908124
ensemblrs121908124
gopubmedrs121908124
geneviewrs121908124
scholarrs121908124
googlers121908124
pharmgkbrs121908124
gwascentralrs121908124
openSNPrs121908124
23andMers121908124
23andMe allrs121908124
SNP Nexus

SNPshotrs121908124
SNPdbers121908124
MSV3drs121908124
GWAS Ctlgrs121908124
Max Magnitude0
OMIM606272
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908124(T;T)
Alt rs121908124(T;T)
Reference rs121908124(G;G)
Significance Pathogenic
Disease Cystinosis
Variation info
Gene CTNS
CLNDBN Cystinosis
Reversed 0
HGVS NC_000017.10:g.3558349G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004691.3,