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rs4148945

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4148945(C;T)
Make rs4148945(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position72009832
GeneCHST3
is asnp
is mentioned by
dbSNPrs4148945
dbSNP (old)rs4148945
ClinGenrs4148945
ebirs4148945
HLIrs4148945
Exacrs4148945
Varsomers4148945
Maprs4148945
PheGenIrs4148945
Biobankrs4148945
1000 genomesrs4148945
hgdprs4148945
ensemblrs4148945
gopubmedrs4148945
geneviewrs4148945
scholarrs4148945
googlers4148945
pharmgkbrs4148945
gwascentralrs4148945
openSNPrs4148945
23andMers4148945
23andMe allrs4148945
SNP Nexus

SNPshotrs4148945
SNPdbers4148945
MSV3drs4148945
GWAS Ctlgrs4148945
GMAF0.2686
Max Magnitude0
? (C;C) (C;T) (T;T) 28


GET Evidence
rs4148945
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.289062
summary



ClinVar
Risk rs4148945(T;T)
Alt rs4148945(T;T)
Reference Rs4148945(C;C)
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 0
HGVS NC_000010.10:g.73769590C>T
CLNSRC
CLNACC RCV000302848.1, RCV000303933.1, RCV000339038.1, RCV000401659.1,