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rs2229491

From SNPedia

Orientationminus
Stabilizedminus
Make rs2229491(A;A)
Make rs2229491(A;G)
Make rs2229491(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position21842308
GeneHSPG2
is asnp
is mentioned by
dbSNPrs2229491
ebirs2229491
HLIrs2229491
Exacrs2229491
Varsomers2229491
Maprs2229491
PheGenIrs2229491
hapmaprs2229491
1000 genomesrs2229491
hgdprs2229491
ensemblrs2229491
gopubmedrs2229491
geneviewrs2229491
scholarrs2229491
googlers2229491
pharmgkbrs2229491
gwascentralrs2229491
openSNPrs2229491
23andMers2229491
23andMe allrs2229491
SNP Nexus

SNPshotrs2229491
SNPdbers2229491
MSV3drs2229491
GWAS Ctlgrs2229491
GMAF0.07759
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene HSPG2
allele C
frequency 0.068
sift TOLERATED
HuRef 1103675043251
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.



Neighborrs2229489
Distance44


GET Evidence
HSPG2-S2995G
aa_change Ser2995Gly
aa_change_short S2995G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.11517
summary