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rs794727607

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727607(C;T)
Make rs794727607(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47980649
GeneCOL2A1, LOC105369752
is asnp
is mentioned by
dbSNPrs794727607
ebirs794727607
HLIrs794727607
Exacrs794727607
Varsomers794727607
Maprs794727607
PheGenIrs794727607
hapmaprs794727607
1000 genomesrs794727607
hgdprs794727607
ensemblrs794727607
gopubmedrs794727607
geneviewrs794727607
scholarrs794727607
googlers794727607
pharmgkbrs794727607
gwascentralrs794727607
openSNPrs794727607
23andMers794727607
23andMe allrs794727607
SNP Nexus

SNPshotrs794727607
SNPdbers794727607
MSV3drs794727607
GWAS Ctlgrs794727607
Max Magnitude0
ClinVar
Risk rs794727607(T;T)
Alt rs794727607(T;T)
Reference rs794727607(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.48374432G>A
CLNSRC
CLNACC RCV000177979.1,