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rs121908620

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908620(C;C)
Make rs121908620(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position72007888
GeneCHST3
is asnp
is mentioned by
dbSNPrs121908620
ebirs121908620
HLIrs121908620
Exacrs121908620
Varsomers121908620
Maprs121908620
PheGenIrs121908620
hapmaprs121908620
1000 genomesrs121908620
hgdprs121908620
ensemblrs121908620
gopubmedrs121908620
geneviewrs121908620
scholarrs121908620
googlers121908620
pharmgkbrs121908620
gwascentralrs121908620
openSNPrs121908620
23andMers121908620
23andMe allrs121908620
SNP Nexus

SNPshotrs121908620
SNPdbers121908620
MSV3drs121908620
GWAS Ctlgrs121908620
Max Magnitude0
OMIM603799
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908620(C;C)
Alt rs121908620(C;C)
Reference rs121908620(T;T)
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.73767646T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006419.3,