Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908618(C;C)
Make rs121908618(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position72007951
GeneCHST3
is asnp
is mentioned by
dbSNPrs121908618
ebirs121908618
HLIrs121908618
Exacrs121908618
Varsomers121908618
Maprs121908618
PheGenIrs121908618
hapmaprs121908618
1000 genomesrs121908618
hgdprs121908618
ensemblrs121908618
gopubmedrs121908618
geneviewrs121908618
scholarrs121908618
googlers121908618
pharmgkbrs121908618
gwascentralrs121908618
openSNPrs121908618
23andMers121908618
23andMe allrs121908618
SNP Nexus

SNPshotrs121908618
SNPdbers121908618
MSV3drs121908618
GWAS Ctlgrs121908618
Max Magnitude0
OMIM603799
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908618(C;C)
Alt rs121908618(C;C)
Reference rs121908618(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.73767709T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006416.3,