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rs1874792

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1874792(A;A)
Make rs1874792(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position21880742
GeneHSPG2
is asnp
is mentioned by
dbSNPrs1874792
ebirs1874792
HLIrs1874792
Exacrs1874792
Varsomers1874792
Maprs1874792
PheGenIrs1874792
hapmaprs1874792
1000 genomesrs1874792
hgdprs1874792
ensemblrs1874792
gopubmedrs1874792
geneviewrs1874792
scholarrs1874792
googlers1874792
pharmgkbrs1874792
gwascentralrs1874792
openSNPrs1874792
23andMers1874792
23andMe allrs1874792
SNP Nexus

SNPshotrs1874792
SNPdbers1874792
MSV3drs1874792
GWAS Ctlgrs1874792
GMAF0.01882
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene HSPG2
allele C
frequency 1
sift TOLERATED
HuRef 1103675043347
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.



Neighborrs989994
Distance586


GET Evidence
HSPG2-M638V
aa_change Met638Val
aa_change_short M638V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.973728
summary