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rs12418

From SNPedia

Orientationplus
Stabilizedplus
Make rs12418(A;A)
Make rs12418(A;G)
Make rs12418(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position72013256
GeneCHST3
is asnp
is mentioned by
dbSNPrs12418
ClinGenrs12418
ebirs12418
HLIrs12418
Exacrs12418
Varsomers12418
Maprs12418
PheGenIrs12418
hapmaprs12418
1000 genomesrs12418
hgdprs12418
ensemblrs12418
gopubmedrs12418
geneviewrs12418
scholarrs12418
googlers12418
pharmgkbrs12418
gwascentralrs12418
openSNPrs12418
23andMers12418
23andMe allrs12418
SNP Nexus

SNPshotrs12418
SNPdbers12418
MSV3drs12418
GWAS Ctlgrs12418
GMAF0.3145
Max Magnitude
? (A;A) (A;G) (G;G) 28


GET Evidence
rs12418
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.335938
summary



ClinVar
Risk rs12418(A;A)
Alt rs12418(A;A)
Reference rs12418(G;G)
Significance Non-pathogenic
Disease Larsen syndrome Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia
Variation info
Gene CHST3
CLNDBN Larsen syndrome Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia
Reversed 0
HGVS NC_000010.10:g.73773014G>A
CLNSRC
CLNACC RCV000261067.1, RCV000304537.1, RCV000353937.1, RCV000361562.1,