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rs2229493

From SNPedia

Orientationminus
Stabilizedminus
Make rs2229493(A;A)
Make rs2229493(A;G)
Make rs2229493(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position21833550
GeneHSPG2
is asnp
is mentioned by
dbSNPrs2229493
ebirs2229493
HLIrs2229493
Exacrs2229493
Varsomers2229493
Maprs2229493
PheGenIrs2229493
hapmaprs2229493
1000 genomesrs2229493
hgdprs2229493
ensemblrs2229493
gopubmedrs2229493
geneviewrs2229493
scholarrs2229493
googlers2229493
pharmgkbrs2229493
gwascentralrs2229493
openSNPrs2229493
23andMers2229493
23andMe allrs2229493
SNP Nexus

SNPshotrs2229493
SNPdbers2229493
MSV3drs2229493
GWAS Ctlgrs2229493
GMAF0.0753
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene HSPG2
allele T
frequency 0.068
sift TOLERATED
HuRef 1103675043229
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.



GET Evidence
HSPG2-R3632Q
aa_change Arg3632Gln
aa_change_short R3632Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.112381
summary