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rs794727339

From SNPedia

Orientationminus
Stabilizedminus
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
dbSNP (classic)rs794727339
ClinGenrs794727339
ebirs794727339
HLIrs794727339
Exacrs794727339
Gnomadrs794727339
Varsomers794727339
LitVarrs794727339
Maprs794727339
PheGenIrs794727339
Biobankrs794727339
1000 genomesrs794727339
hgdprs794727339
ensemblrs794727339
geneviewrs794727339
scholarrs794727339
googlers794727339
pharmgkbrs794727339
gwascentralrs794727339
openSNPrs794727339
23andMers794727339
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 Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Spondyloepiphyseal dysplasia congenita Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48380868C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000176186.1, RCV000304689.1,