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rs398123628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123628(-;-)
Make rs398123628(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47989777
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs398123628
ebirs398123628
HLIrs398123628
Exacrs398123628
Varsomers398123628
Maprs398123628
PheGenIrs398123628
hapmaprs398123628
1000 genomesrs398123628
hgdprs398123628
ensemblrs398123628
gopubmedrs398123628
geneviewrs398123628
scholarrs398123628
googlers398123628
pharmgkbrs398123628
gwascentralrs398123628
openSNPrs398123628
23andMers398123628
23andMe allrs398123628
SNP Nexus

SNPshotrs398123628
SNPdbers398123628
MSV3drs398123628
GWAS Ctlgrs398123628
Max Magnitude0
ClinVar
Risk rs398123628(;)
Alt rs398123628(;)
Reference rs398123628(G;G)
Significance Pathogenic
Disease not provided Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN not provided Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48383560delC
CLNSRC ClinVar
CLNACC RCV000079723.3, RCV000175162.1,