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rs864621973

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864621973(A;A)
Make rs864621973(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47977128
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs864621973
ebirs864621973
HLIrs864621973
Exacrs864621973
Varsomers864621973
Maprs864621973
PheGenIrs864621973
hapmaprs864621973
1000 genomesrs864621973
hgdprs864621973
ensemblrs864621973
gopubmedrs864621973
geneviewrs864621973
scholarrs864621973
googlers864621973
pharmgkbrs864621973
gwascentralrs864621973
openSNPrs864621973
23andMers864621973
23andMe allrs864621973
SNP Nexus

SNPshotrs864621973
SNPdbers864621973
MSV3drs864621973
GWAS Ctlgrs864621973
Max Magnitude0
ClinVar
Risk rs864621973(A;A)
Alt rs864621973(A;A)
Reference rs864621973(G;G)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia congenita
Variation info
Gene COL2A1
CLNDBN Spondyloepiphyseal dysplasia congenita
Reversed 1
HGVS NC_000012.11:g.48370911C>T
CLNSRC
CLNACC RCV000205306.1,