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rs794727339

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727339(C;C)
Make rs794727339(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47987085
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727339
ebirs794727339
HLIrs794727339
Exacrs794727339
Varsomers794727339
Maprs794727339
PheGenIrs794727339
hapmaprs794727339
1000 genomesrs794727339
hgdprs794727339
ensemblrs794727339
gopubmedrs794727339
geneviewrs794727339
scholarrs794727339
googlers794727339
pharmgkbrs794727339
gwascentralrs794727339
openSNPrs794727339
23andMers794727339
23andMe allrs794727339
SNP Nexus

SNPshotrs794727339
SNPdbers794727339
MSV3drs794727339
GWAS Ctlgrs794727339
Max Magnitude0
ClinVar
Risk rs794727339(C;C)
Alt rs794727339(C;C)
Reference rs794727339(G;G)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia congenita
Variation info
Gene COL2A1
CLNDBN Spondyloepiphyseal dysplasia congenita
Reversed 1
HGVS NC_000012.11:g.48380868C>G
CLNSRC
CLNACC RCV000176186.1,