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rs3736360

From SNPedia

Orientationminus
Stabilizedminus
Make rs3736360(A;A)
Make rs3736360(A;G)
Make rs3736360(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position21823627
GeneHSPG2, LDLRAD2
is asnp
is mentioned by
dbSNPrs3736360
ebirs3736360
HLIrs3736360
Exacrs3736360
Varsomers3736360
Maprs3736360
PheGenIrs3736360
hapmaprs3736360
1000 genomesrs3736360
hgdprs3736360
ensemblrs3736360
gopubmedrs3736360
geneviewrs3736360
scholarrs3736360
googlers3736360
pharmgkbrs3736360
gwascentralrs3736360
openSNPrs3736360
23andMers3736360
23andMe allrs3736360
SNP Nexus

SNPshotrs3736360
SNPdbers3736360
MSV3drs3736360
GWAS Ctlgrs3736360
GMAF0.157
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene HSPG2
allele T
frequency 0.22
sift TOLERATED
HuRef 1103675043217
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-S4331N
aa_change Ser4331Asn
aa_change_short S4331N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.147053
summary