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rs794727261

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727261(A;A)
Make rs794727261(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47999953
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727261
ebirs794727261
HLIrs794727261
Exacrs794727261
Varsomers794727261
Maprs794727261
PheGenIrs794727261
hapmaprs794727261
1000 genomesrs794727261
hgdprs794727261
ensemblrs794727261
gopubmedrs794727261
geneviewrs794727261
scholarrs794727261
googlers794727261
pharmgkbrs794727261
gwascentralrs794727261
openSNPrs794727261
23andMers794727261
23andMe allrs794727261
SNP Nexus

SNPshotrs794727261
SNPdbers794727261
MSV3drs794727261
GWAS Ctlgrs794727261
Max Magnitude0
ClinVar
Risk rs794727261(A;A)
Alt rs794727261(A;A)
Reference rs794727261(C;C)
Significance Pathogenic
Disease Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48393736G>T
CLNSRC
CLNACC RCV000175700.1,