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rs794727596

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727596(G;T)
Make rs794727596(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47981378
GeneCOL2A1, LOC105369752
is asnp
is mentioned by
dbSNPrs794727596
ebirs794727596
HLIrs794727596
Exacrs794727596
Varsomers794727596
Maprs794727596
PheGenIrs794727596
hapmaprs794727596
1000 genomesrs794727596
hgdprs794727596
ensemblrs794727596
gopubmedrs794727596
geneviewrs794727596
scholarrs794727596
googlers794727596
pharmgkbrs794727596
gwascentralrs794727596
openSNPrs794727596
23andMers794727596
23andMe allrs794727596
SNP Nexus

SNPshotrs794727596
SNPdbers794727596
MSV3drs794727596
GWAS Ctlgrs794727596
Max Magnitude0
ClinVar
Risk rs794727596(T;T)
Alt rs794727596(T;T)
Reference rs794727596(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.48375161C>A
CLNSRC
CLNACC RCV000177904.1,