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rs794727462

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727462(A;A)
Make rs794727462(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47984572
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727462
ebirs794727462
HLIrs794727462
Exacrs794727462
Varsomers794727462
Maprs794727462
PheGenIrs794727462
hapmaprs794727462
1000 genomesrs794727462
hgdprs794727462
ensemblrs794727462
gopubmedrs794727462
geneviewrs794727462
scholarrs794727462
googlers794727462
pharmgkbrs794727462
gwascentralrs794727462
openSNPrs794727462
23andMers794727462
23andMe allrs794727462
SNP Nexus

SNPshotrs794727462
SNPdbers794727462
MSV3drs794727462
GWAS Ctlgrs794727462
Max Magnitude0
ClinVar
Risk rs794727462(A;A)
Alt rs794727462(A;A)
Reference rs794727462(G;G)
Significance Probable-Pathogenic
Disease Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48378355C>T
CLNSRC
CLNACC RCV000176855.1,