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rs730720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730720(A;A)
Make rs730720(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position72013004
GeneCHST3
is asnp
is mentioned by
dbSNPrs730720
dbSNP (classic)rs730720
ClinGenrs730720
ebirs730720
HLIrs730720
Exacrs730720
Gnomadrs730720
Varsomers730720
LitVarrs730720
Maprs730720
PheGenIrs730720
Biobankrs730720
1000 genomesrs730720
hgdprs730720
ensemblrs730720
geneviewrs730720
scholarrs730720
googlers730720
pharmgkbrs730720
gwascentralrs730720
openSNPrs730720
23andMers730720
SNPshotrs730720
SNPdbers730720
MSV3drs730720
GWAS Ctlgrs730720
GMAF0.3595
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs730720(A;A)
Alt rs730720(A;A)
Reference Rs730720(G;G)
Significance Non-pathogenic
Disease Larsen syndrome Skeletal dysplasia Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations
Variation info
Gene CHST3
CLNDBN Larsen syndrome Skeletal dysplasia Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations
Reversed 1
HGVS NC_000010.10:g.73772762C>T
CLNSRC
CLNACC RCV000273915.1, RCV000331224.1, RCV000355694.1, RCV000370815.1,