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rs794727684

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727684(A;A)
Make rs794727684(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47977154
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727684
ebirs794727684
HLIrs794727684
Exacrs794727684
Varsomers794727684
Maprs794727684
PheGenIrs794727684
hapmaprs794727684
1000 genomesrs794727684
hgdprs794727684
ensemblrs794727684
gopubmedrs794727684
geneviewrs794727684
scholarrs794727684
googlers794727684
pharmgkbrs794727684
gwascentralrs794727684
openSNPrs794727684
23andMers794727684
23andMe allrs794727684
SNP Nexus

SNPshotrs794727684
SNPdbers794727684
MSV3drs794727684
GWAS Ctlgrs794727684
Max Magnitude0
ClinVar
Risk rs794727684(A;A)
Alt rs794727684(A;A)
Reference rs794727684(G;G)
Significance Probable-Pathogenic
Disease Spondyloepiphyseal dysplasia congenita
Variation info
Gene COL2A1
CLNDBN Spondyloepiphyseal dysplasia congenita
Reversed 1
HGVS NC_000012.11:g.48370937C>T
CLNSRC
CLNACC RCV000178624.1,