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rs1871450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1871450(A;A)
Make rs1871450(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position72012256
GeneCHST3
is asnp
is mentioned by
dbSNPrs1871450
dbSNP (old)rs1871450
ClinGenrs1871450
ebirs1871450
HLIrs1871450
Exacrs1871450
Gnomadrs1871450
Varsomers1871450
Maprs1871450
PheGenIrs1871450
Biobankrs1871450
1000 genomesrs1871450
hgdprs1871450
ensemblrs1871450
gopubmedrs1871450
geneviewrs1871450
scholarrs1871450
googlers1871450
pharmgkbrs1871450
gwascentralrs1871450
openSNPrs1871450
23andMers1871450
23andMe allrs1871450
SNP Nexus

SNPshotrs1871450
SNPdbers1871450
MSV3drs1871450
GWAS Ctlgrs1871450
GMAF0.3154
Max Magnitude0
? (A;A) (A;G) (G;G) 28


GET Evidence
rs1871450
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.335938
summary



ClinVar
Risk rs1871450(A;A)
Alt rs1871450(A;A)
Reference Rs1871450(G;G)
Significance Non-pathogenic
Disease Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia Larsen syndrome
Variation info
Gene CHST3
CLNDBN Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia Larsen syndrome
Reversed 0
HGVS NC_000010.10:g.73772014G>A
CLNSRC
CLNACC RCV000277899.1, RCV000332798.1, RCV000363106.1, RCV000387337.1,