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rs6701253

From SNPedia

Merged intors2228349
Orientationminus
Stabilizedminus
Make rs6701253(A;A)
Make rs6701253(A;G)
Make rs6701253(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position21841112
GeneHSPG2
is asnp
is mentioned by
dbSNPrs6701253
ebirs6701253
HLIrs6701253
Exacrs6701253
Varsomers6701253
Maprs6701253
PheGenIrs6701253
hapmaprs6701253
1000 genomesrs6701253
hgdprs6701253
ensemblrs6701253
gopubmedrs6701253
geneviewrs6701253
scholarrs6701253
googlers6701253
pharmgkbrs6701253
gwascentralrs6701253
openSNPrs6701253
23andMers6701253
23andMe allrs6701253
SNP Nexus

SNPshotrs6701253
SNPdbers6701253
MSV3drs6701253
GWAS Ctlgrs6701253
StatusMerged into rs2228349
Max Magnitude
Venter snp
Source plos
Gene HSPG2
allele T
frequency
sift AFFECT FUNCTION
HuRef 1103675043247
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.