Have questions? Visit https://www.reddit.com/r/SNPedia

rs35669711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs35669711(C;T)
Make rs35669711(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position21852751
GeneHSPG2
is asnp
is mentioned by
dbSNPrs35669711
ebirs35669711
HLIrs35669711
Exacrs35669711
Varsomers35669711
Maprs35669711
PheGenIrs35669711
hapmaprs35669711
1000 genomesrs35669711
hgdprs35669711
ensemblrs35669711
gopubmedrs35669711
geneviewrs35669711
scholarrs35669711
googlers35669711
pharmgkbrs35669711
gwascentralrs35669711
openSNPrs35669711
23andMers35669711
23andMe allrs35669711
SNP Nexus

SNPshotrs35669711
SNPdbers35669711
MSV3drs35669711
GWAS Ctlgrs35669711
GMAF0.0225
Max Magnitude0
Venter snp
Source plos
Gene HSPG2
allele T
frequency
sift TOLERATED
HuRef 1103675043287
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-G2225S
aa_change Gly2225Ser
aa_change_short G2225S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0417441
summary