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rs751557

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs751557(G;T)
Make rs751557(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position62832170
GeneCOL9A3
is asnp
is mentioned by
dbSNPrs751557
ebirs751557
HLIrs751557
Exacrs751557
Varsomers751557
Maprs751557
PheGenIrs751557
hapmaprs751557
1000 genomesrs751557
hgdprs751557
ensemblrs751557
gopubmedrs751557
geneviewrs751557
scholarrs751557
googlers751557
pharmgkbrs751557
gwascentralrs751557
openSNPrs751557
23andMers751557
23andMe allrs751557
SNP Nexus

SNPshotrs751557
SNPdbers751557
MSV3drs751557
GWAS Ctlgrs751557
GMAF0.2121
Max Magnitude0
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene COL9A3
allele A
frequency
sift TOLERATED
HuRef 1103643240211
Disease Association Defects in COL9A3 are the cause of multiple epiphyseal dysplasia 3 (EDM3) (MIM:600969); also known as multiple epiphyseal dysplasia with myopathy. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types.



GET Evidence
COL9A3-A435E
aa_change Ala435Glu
aa_change_short A435E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.270961
summary



ClinVar
Risk rs751557(T;T)
Alt rs751557(T;T)
Reference rs751557(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene COL9A3
CLNDBN not specified
Reversed 1
HGVS NC_000020.10:g.61463522C>A
CLNSRC
CLNACC RCV000176546.1,