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rs794727761

From SNPedia

Orientationminus
Make rs794727761(-;-)
Make rs794727761(-;CCGG)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47973421
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727761
ClinGenrs794727761
ebirs794727761
HLIrs794727761
Exacrs794727761
Varsomers794727761
Maprs794727761
PheGenIrs794727761
hapmaprs794727761
1000 genomesrs794727761
hgdprs794727761
ensemblrs794727761
gopubmedrs794727761
geneviewrs794727761
scholarrs794727761
googlers794727761
pharmgkbrs794727761
gwascentralrs794727761
openSNPrs794727761
23andMers794727761
23andMe allrs794727761
SNP Nexus

SNPshotrs794727761
SNPdbers794727761
MSV3drs794727761
GWAS Ctlgrs794727761
Max Magnitude
ClinVar
Risk
Alt
Reference Rs794727761(CCGG;CCGG)
Significance 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.48367204_48367207delCCGG
CLNSRC
CLNACC RCV000179141.1,