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rs794727026

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727026(A;A)
Make rs794727026(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47995254
GeneCOL2A1, LOC105369751
is asnp
is mentioned by
dbSNPrs794727026
ebirs794727026
HLIrs794727026
Exacrs794727026
Varsomers794727026
Maprs794727026
PheGenIrs794727026
hapmaprs794727026
1000 genomesrs794727026
hgdprs794727026
ensemblrs794727026
gopubmedrs794727026
geneviewrs794727026
scholarrs794727026
googlers794727026
pharmgkbrs794727026
gwascentralrs794727026
openSNPrs794727026
23andMers794727026
23andMe allrs794727026
SNP Nexus

SNPshotrs794727026
SNPdbers794727026
MSV3drs794727026
GWAS Ctlgrs794727026
Max Magnitude0
ClinVar
Risk rs794727026(A;A)
Alt rs794727026(A;A)
Reference rs794727026(G;G)
Significance Pathogenic
Disease Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48389037C>T
CLNSRC
CLNACC RCV000174056.1,