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rs794727761

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCGG;CCGG) 0 common in clinvar
Make rs794727761(-;-)
Make rs794727761(-;CCGG)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47973421
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727761
dbSNP (old)rs794727761
ClinGenrs794727761
ebirs794727761
HLIrs794727761
Exacrs794727761
Gnomadrs794727761
Varsomers794727761
Maprs794727761
PheGenIrs794727761
Biobankrs794727761
1000 genomesrs794727761
hgdprs794727761
ensemblrs794727761
gopubmedrs794727761
geneviewrs794727761
scholarrs794727761
googlers794727761
pharmgkbrs794727761
gwascentralrs794727761
openSNPrs794727761
23andMers794727761
23andMe allrs794727761
SNP Nexus

SNPshotrs794727761
SNPdbers794727761
MSV3drs794727761
GWAS Ctlgrs794727761
Max Magnitude0
ClinVar
Risk rs794727761(-;-)
Alt rs794727761(-;-)
Reference Rs794727761(CCGG;CCGG)
Significance Pathogenic
Disease Platyspondylic lethal skeletal dysplasia Torrance type Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Platyspondylic lethal skeletal dysplasia Torrance type Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48367204_48367207delCCGG
CLNSRC
CLNACC RCV000179141.1, RCV000296059.1,