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

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
dbSNP (old)rs751557
ClinGenrs751557
ebirs751557
HLIrs751557
Exacrs751557
Gnomadrs751557
Varsomers751557
Maprs751557
PheGenIrs751557
Biobankrs751557
1000 genomesrs751557
hgdprs751557
ensemblrs751557
gopubmedrs751557
geneviewrs751557
scholarrs751557
googlers751557
pharmgkbrs751557
gwascentralrs751557
openSNPrs751557
23andMers751557
23andMe allrs751557
SNPshotrs751557
SNPdbers751557
MSV3drs751557
GWAS Ctlgrs751557
GMAF0.2121
Max Magnitude0
? (G;G) (G;T) (T;T) 28



ClinVar
Risk rs751557(T;T)
Alt rs751557(T;T)
Reference Rs751557(G;G)
Significance Non-pathogenic
Disease not specified Multiple Epiphyseal Dysplasia
Variation info
Gene COL9A3
CLNDBN not specified Multiple Epiphyseal Dysplasia, Dominant
Reversed 1
HGVS NC_000020.10:g.61463522C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000176546.2, RCV000304474.1,