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rs28937593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937593(A;A)
Make rs28937593(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position72007942
GeneCHST3
is asnp
is mentioned by
dbSNPrs28937593
ebirs28937593
HLIrs28937593
Exacrs28937593
Varsomers28937593
Maprs28937593
PheGenIrs28937593
hapmaprs28937593
1000 genomesrs28937593
hgdprs28937593
ensemblrs28937593
gopubmedrs28937593
geneviewrs28937593
scholarrs28937593
googlers28937593
pharmgkbrs28937593
gwascentralrs28937593
openSNPrs28937593
23andMers28937593
23andMe allrs28937593
SNP Nexus

SNPshotrs28937593
SNPdbers28937593
MSV3drs28937593
GWAS Ctlgrs28937593
Max Magnitude0
OMIM603799
DescSPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE
Variant0001
Relatedalso
Neighborrs3740129
Distance159


ClinVar
Risk rs28937593(A;A)
Alt rs28937593(A;A)
Reference rs28937593(G;G)
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.73767700G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006412.3,