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

rs2229475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 0 Likely to be benign according to ClinVar
(G;G) 0 common on affy axiom data


Make rs2229475(A;A)
ReferenceGRCh38 38.1/142
Chromosome1
Position21855402
GeneHSPG2
is asnp
is mentioned by
dbSNPrs2229475
dbSNP (old)rs2229475
ClinGenrs2229475
ebirs2229475
HLIrs2229475
Exacrs2229475
Gnomadrs2229475
Varsomers2229475
Maprs2229475
PheGenIrs2229475
Biobankrs2229475
1000 genomesrs2229475
hgdprs2229475
ensemblrs2229475
gopubmedrs2229475
geneviewrs2229475
scholarrs2229475
googlers2229475
pharmgkbrs2229475
gwascentralrs2229475
openSNPrs2229475
23andMers2229475
23andMe allrs2229475
SNP Nexus

SNPshotrs2229475
SNPdbers2229475
MSV3drs2229475
GWAS Ctlgrs2229475
GMAF0.0225
Max Magnitude0
Venter snp
Source plos
Gene HSPG2
allele T
frequency
sift TOLERATED
HuRef 1103675043291
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-V1967I
aa_change Val1967Ile
aa_change_short V1967I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.041101
summary



ClinVar
Risk rs2229475(A;A)
Alt rs2229475(A;A)
Reference Rs2229475(G;G)
Significance Probable-non-pathogenic
Disease Dyssegmental Dysplasia Schwartz Jampel syndrome type 1
Variation info
Gene HSPG2
CLNDBN Dyssegmental Dysplasia Schwartz Jampel syndrome type 1
Reversed 1
HGVS NC_000001.10:g.22181895C>T
CLNSRC
CLNACC RCV000339647.1, RCV000375538.1,