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rs121908617

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908617(C;T)
Make rs121908617(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position72007695
GeneCHST3
is asnp
is mentioned by
dbSNPrs121908617
ebirs121908617
HLIrs121908617
Exacrs121908617
Varsomers121908617
Maprs121908617
PheGenIrs121908617
hapmaprs121908617
1000 genomesrs121908617
hgdprs121908617
ensemblrs121908617
gopubmedrs121908617
geneviewrs121908617
scholarrs121908617
googlers121908617
pharmgkbrs121908617
gwascentralrs121908617
openSNPrs121908617
23andMers121908617
23andMe allrs121908617
SNP Nexus

SNPshotrs121908617
SNPdbers121908617
MSV3drs121908617
GWAS Ctlgrs121908617
Max Magnitude0
OMIM603799
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908617(T;T)
Alt rs121908617(T;T)
Reference rs121908617(C;C)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia with congenital joint dislocations
Variation info
Gene CHST3
CLNDBN Spondyloepiphyseal dysplasia with congenital joint dislocations
Reversed 0
HGVS NC_000010.10:g.73767453C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006415.3,