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rs121908619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908619(A;A)
Make rs121908619(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position72007634
GeneCHST3
is asnp
is mentioned by
dbSNPrs121908619
ebirs121908619
HLIrs121908619
Exacrs121908619
Varsomers121908619
Maprs121908619
PheGenIrs121908619
hapmaprs121908619
1000 genomesrs121908619
hgdprs121908619
ensemblrs121908619
gopubmedrs121908619
geneviewrs121908619
scholarrs121908619
googlers121908619
pharmgkbrs121908619
gwascentralrs121908619
openSNPrs121908619
23andMers121908619
23andMe allrs121908619
SNP Nexus

SNPshotrs121908619
SNPdbers121908619
MSV3drs121908619
GWAS Ctlgrs121908619
Max Magnitude0
OMIM603799
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908619(A;A)
Alt rs121908619(A;A)
Reference rs121908619(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.73767392C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006418.4,