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rs121908616

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908616(C;C)
Make rs121908616(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position72007807
GeneCHST3
is asnp
is mentioned by
dbSNPrs121908616
ebirs121908616
HLIrs121908616
Exacrs121908616
Varsomers121908616
Maprs121908616
PheGenIrs121908616
hapmaprs121908616
1000 genomesrs121908616
hgdprs121908616
ensemblrs121908616
gopubmedrs121908616
geneviewrs121908616
scholarrs121908616
googlers121908616
pharmgkbrs121908616
gwascentralrs121908616
openSNPrs121908616
23andMers121908616
23andMe allrs121908616
SNP Nexus

SNPshotrs121908616
SNPdbers121908616
MSV3drs121908616
GWAS Ctlgrs121908616
Max Magnitude0
OMIM603799
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908616(C;C)
Alt rs121908616(C;C)
Reference rs121908616(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.73767565T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006413.3,