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rs794727472

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727472(G;T)
Make rs794727472(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47984104
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727472
ebirs794727472
HLIrs794727472
Exacrs794727472
Varsomers794727472
Maprs794727472
PheGenIrs794727472
hapmaprs794727472
1000 genomesrs794727472
hgdprs794727472
ensemblrs794727472
gopubmedrs794727472
geneviewrs794727472
scholarrs794727472
googlers794727472
pharmgkbrs794727472
gwascentralrs794727472
openSNPrs794727472
23andMers794727472
23andMe allrs794727472
SNP Nexus

SNPshotrs794727472
SNPdbers794727472
MSV3drs794727472
GWAS Ctlgrs794727472
Max Magnitude0
ClinVar
Risk rs794727472(T;T)
Alt rs794727472(T;T)
Reference rs794727472(G;G)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL2A1
CLNDBN Stickler syndrome, type I, nonsyndromic ocular
Reversed 1
HGVS NC_000012.11:g.48377887C>A
CLNSRC
CLNACC RCV000176926.1,