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rs4148950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs4148950(A;A)
Make rs4148950(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position72011948
GeneCHST3
is asnp
is mentioned by
dbSNPrs4148950
dbSNP (classic)rs4148950
ClinGenrs4148950
ebirs4148950
HLIrs4148950
Exacrs4148950
Gnomadrs4148950
Varsomers4148950
LitVarrs4148950
Maprs4148950
PheGenIrs4148950
Biobankrs4148950
1000 genomesrs4148950
hgdprs4148950
ensemblrs4148950
geneviewrs4148950
scholarrs4148950
googlers4148950
pharmgkbrs4148950
gwascentralrs4148950
openSNPrs4148950
23andMers4148950
SNPshotrs4148950
SNPdbers4148950
MSV3drs4148950
GWAS Ctlgrs4148950
GMAF0.3154
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs4148950(A;A)
Alt rs4148950(A;A)
Reference Rs4148950(G;G)
Significance Non-pathogenic
Disease Larsen syndrome Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Skeletal dysplasia
Variation info
Gene CHST3
CLNDBN Larsen syndrome Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Skeletal dysplasia
Reversed 0
HGVS NC_000010.10:g.73771706G>A
CLNSRC
CLNACC RCV000259512.1, RCV000304292.1, RCV000317109.1, RCV000361298.1,