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rs794727377

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794727377(A;C)
Make rs794727377(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position47986445
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs794727377
ebirs794727377
HLIrs794727377
Exacrs794727377
Varsomers794727377
Maprs794727377
PheGenIrs794727377
hapmaprs794727377
1000 genomesrs794727377
hgdprs794727377
ensemblrs794727377
gopubmedrs794727377
geneviewrs794727377
scholarrs794727377
googlers794727377
pharmgkbrs794727377
gwascentralrs794727377
openSNPrs794727377
23andMers794727377
23andMe allrs794727377
SNP Nexus

SNPshotrs794727377
SNPdbers794727377
MSV3drs794727377
GWAS Ctlgrs794727377
Max Magnitude0
ClinVar
Risk rs794727377(C;C)
Alt rs794727377(C;C)
Reference rs794727377(A;A)
Significance Pathogenic
Disease Spondyloperipheral dysplasia Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Spondyloperipheral dysplasia Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48380228T>G
CLNSRC
CLNACC RCV000176386.1, RCV000176387.1,