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rs794727748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACCA;ACCA) 0 common in clinvar
Make rs794727748(-;-)
Make rs794727748(-;ACCA)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47975409
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727748
dbSNP (old)rs794727748
ClinGenrs794727748
ebirs794727748
HLIrs794727748
Exacrs794727748
Gnomadrs794727748
Varsomers794727748
Maprs794727748
PheGenIrs794727748
Biobankrs794727748
1000 genomesrs794727748
hgdprs794727748
ensemblrs794727748
gopubmedrs794727748
geneviewrs794727748
scholarrs794727748
googlers794727748
pharmgkbrs794727748
gwascentralrs794727748
openSNPrs794727748
23andMers794727748
23andMe allrs794727748
SNP Nexus

SNPshotrs794727748
SNPdbers794727748
MSV3drs794727748
GWAS Ctlgrs794727748
Max Magnitude0
ClinVar
Risk rs794727748(-;-)
Alt rs794727748(-;-)
Reference Rs794727748(ACCA;ACCA)
Significance Pathogenic
Disease Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48369192_48369195delTGGT
CLNSRC
CLNACC RCV000179086.1,