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rs794727438

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727438(G;T)
Make rs794727438(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47985029
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727438
ebirs794727438
HLIrs794727438
Exacrs794727438
Varsomers794727438
Maprs794727438
PheGenIrs794727438
hapmaprs794727438
1000 genomesrs794727438
hgdprs794727438
ensemblrs794727438
gopubmedrs794727438
geneviewrs794727438
scholarrs794727438
googlers794727438
pharmgkbrs794727438
gwascentralrs794727438
openSNPrs794727438
23andMers794727438
23andMe allrs794727438
SNP Nexus

SNPshotrs794727438
SNPdbers794727438
MSV3drs794727438
GWAS Ctlgrs794727438
Max Magnitude0
ClinVar
Risk rs794727438(T;T)
Alt rs794727438(T;T)
Reference rs794727438(G;G)
Significance Probable-Pathogenic
Disease Platyspondylic lethal skeletal dysplasia Torrance type
Variation info
Gene COL2A1
CLNDBN Platyspondylic lethal skeletal dysplasia Torrance type
Reversed 1
HGVS NC_000012.11:g.48378812C>A
CLNSRC
CLNACC RCV000176730.1,