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rs897471

From SNPedia

Orientationminus
Stabilizedminus
Make rs897471(C;C)
Make rs897471(C;T)
Make rs897471(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position21864961
GeneHSPG2
is asnp
is mentioned by
dbSNPrs897471
ebirs897471
HLIrs897471
Exacrs897471
Varsomers897471
Maprs897471
PheGenIrs897471
hapmaprs897471
1000 genomesrs897471
hgdprs897471
ensemblrs897471
gopubmedrs897471
geneviewrs897471
scholarrs897471
googlers897471
pharmgkbrs897471
gwascentralrs897471
openSNPrs897471
23andMers897471
23andMe allrs897471
SNP Nexus

SNPshotrs897471
SNPdbers897471
MSV3drs897471
GWAS Ctlgrs897471
GMAF0.2576
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene HSPG2
allele A
frequency
sift TOLERATED
HuRef 1103675043306
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-A1503V
aa_change Ala1503Val
aa_change_short A1503V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.694346
summary