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rs794727185

From SNPedia

Orientationminus
Make rs794727185(-;-)
Make rs794727185(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47989773
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727185
ebirs794727185
HLIrs794727185
Exacrs794727185
Varsomers794727185
Maprs794727185
PheGenIrs794727185
hapmaprs794727185
1000 genomesrs794727185
hgdprs794727185
ensemblrs794727185
gopubmedrs794727185
geneviewrs794727185
scholarrs794727185
googlers794727185
pharmgkbrs794727185
gwascentralrs794727185
openSNPrs794727185
23andMers794727185
23andMe allrs794727185
SNP Nexus

SNPshotrs794727185
SNPdbers794727185
MSV3drs794727185
GWAS Ctlgrs794727185
Max Magnitude
ClinVar
Risk
Alt
Reference Rs794727185(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.48383556delG
CLNSRC
CLNACC RCV000175163.1,