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rs989994

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs989994(C;T)
Make rs989994(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position21880156
GeneHSPG2
is asnp
is mentioned by
dbSNPrs989994
ebirs989994
HLIrs989994
Exacrs989994
Varsomers989994
Maprs989994
PheGenIrs989994
hapmaprs989994
1000 genomesrs989994
hgdprs989994
ensemblrs989994
gopubmedrs989994
geneviewrs989994
scholarrs989994
googlers989994
pharmgkbrs989994
gwascentralrs989994
openSNPrs989994
23andMers989994
23andMe allrs989994
SNP Nexus

SNPshotrs989994
SNPdbers989994
MSV3drs989994
GWAS Ctlgrs989994
GMAF0.05372
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene HSPG2
allele C
frequency 1
sift TOLERATED
HuRef 1103675043345
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.



Neighborrs1874792
Distance586


GET Evidence
HSPG2-N765S
aa_change Asn765Ser
aa_change_short N765S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.932608
summary