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rs3740129

From SNPedia

Orientationplus
Stabilizedplus
Make rs3740129(A;A)
Make rs3740129(A;G)
Make rs3740129(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position72008101
GeneCHST3
is asnp
is mentioned by
dbSNPrs3740129
ebirs3740129
HLIrs3740129
Exacrs3740129
Varsomers3740129
Maprs3740129
PheGenIrs3740129
hapmaprs3740129
1000 genomesrs3740129
hgdprs3740129
ensemblrs3740129
gopubmedrs3740129
geneviewrs3740129
scholarrs3740129
googlers3740129
pharmgkbrs3740129
gwascentralrs3740129
openSNPrs3740129
23andMers3740129
23andMe allrs3740129
SNP Nexus

SNPshotrs3740129
SNPdbers3740129
MSV3drs3740129
GWAS Ctlgrs3740129
GMAF0.287
Max Magnitude
Venter snp
Source plos
Gene CHST3
allele A
frequency
sift TOLERATED
HuRef 1103649977709
Disease Association Defects in CHST3 are the cause of spondyloepiphyseal dysplasia Omani type (SED Omani type) (MIM:608637). SED Omani type is an autosomal recessive disorder characterized by normal length at birth but severely reduced adult height (110-130 cm), severe progressive kyphoscoliosis, arthritic changes with joint dislocations, genu valgum, cubitus valgus, mild brachydactyly, camptodactyly, microdontia and normal intelligence. As a consequence of the arthropathy and the contractures, affected individuals develop restricted joint movement.


Neighborrs28937593
Distance159


GET Evidence
CHST3-R357Q
aa_change Arg357Gln
aa_change_short R357Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.358857
summary