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rs2229489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common on affy axiom data
Make rs2229489(A;A)
Make rs2229489(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position21842352
GeneHSPG2
is asnp
is mentioned by
dbSNPrs2229489
ebirs2229489
HLIrs2229489
Exacrs2229489
Varsomers2229489
Maprs2229489
PheGenIrs2229489
hapmaprs2229489
1000 genomesrs2229489
hgdprs2229489
ensemblrs2229489
gopubmedrs2229489
geneviewrs2229489
scholarrs2229489
googlers2229489
pharmgkbrs2229489
gwascentralrs2229489
openSNPrs2229489
23andMers2229489
23andMe allrs2229489
SNP Nexus

SNPshotrs2229489
SNPdbers2229489
MSV3drs2229489
GWAS Ctlgrs2229489
GMAF0.0225
Max Magnitude0
Venter snp
Source plos
Gene HSPG2
allele T
frequency
sift TOLERATED
HuRef 1103675043252
Disease Association Defects in HSPG2 are the cause of dyssegmental dysplasia Silverman-Handmaker type (DDSH) (MIM:224410). The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage.


Neighborrs2229491
Distance44


GET Evidence
HSPG2-L2980H
aa_change Leu2980His
aa_change_short L2980H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0406209
summary